elastase, neutrophil expressed (ELANE) - coding DNA reference sequence

(used for variant description)

(last modified April 23, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_001972.2 in the ELANE gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering ELANE transcript NM_001972.2.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                               .         .         .                g.5038
                       gcacggaggggcagagaccccggagccccagccccacc       c.-1

          .         .         .         .         .         .       g.5098
 ATGACCCTCGGCCGCCGACTCGCGTGTCTTTTCCTCGCCTGTGTCCTGCCGGCCTTGCTG       c.60
 M  T  L  G  R  R  L  A  C  L  F  L  A  C  V  L  P  A  L  L         p.20

         | 02.         .         .         .         .         .    g.5638
 CTGGGGG | GCACCGCGCTGGCCTCGGAGATTGTGGGGGGCCGGCGAGCGCGGCCCCACGCG    c.120
 L  G  G |   T  A  L  A  S  E  I  V  G  G  R  R  A  R  P  H  A      p.40

          .         .         .         .         .         .       g.5698
 TGGCCCTTCATGGTGTCCCTGCAGCTGCGCGGAGGCCACTTCTGCGGCGCCACCCTGATT       c.180
 W  P  F  M  V  S  L  Q  L  R  G  G  H  F  C  G  A  T  L  I         p.60

          .         .         .         .     | 03   .         .    g.5987
 GCGCCCAACTTCGTCATGTCGGCCGCGCACTGCGTGGCGAATGT | AAACGTCCGCGCGGTG    c.240
 A  P  N  F  V  M  S  A  A  H  C  V  A  N  V  |  N  V  R  A  V      p.80

          .         .         .         .         .         .       g.6047
 CGGGTGGTCCTGGGAGCCCATAACCTCTCGCGGCGGGAGCCCACCCGGCAGGTGTTCGCC       c.300
 R  V  V  L  G  A  H  N  L  S  R  R  E  P  T  R  Q  V  F  A         p.100

          .         .         .         .         .         .       g.6107
 GTGCAGCGCATCTTCGAAAACGGCTACGACCCCGTAAACTTGCTCAACGACATCGTGATT       c.360
 V  Q  R  I  F  E  N  G  Y  D  P  V  N  L  L  N  D  I  V  I         p.120

        | 04 .         .         .         .         .         .    g.8327
 CTCCAG | CTCAACGGGTCGGCCACCATCAACGCCAACGTGCAGGTGGCCCAGCTGCCGGCT    c.420
 L  Q   | L  N  G  S  A  T  I  N  A  N  V  Q  V  A  Q  L  P  A      p.140

          .         .         .         .         .         .       g.8387
 CAGGGACGCCGCCTGGGCAACGGGGTGCAGTGCCTGGCCATGGGCTGGGGCCTTCTGGGC       c.480
 Q  G  R  R  L  G  N  G  V  Q  C  L  A  M  G  W  G  L  L  G         p.160

          .         .         .         .         .         .       g.8447
 AGGAACCGTGGGATCGCCAGCGTCCTGCAGGAGCTCAACGTGACGGTGGTGACGTCCCTC       c.540
 R  N  R  G  I  A  S  V  L  Q  E  L  N  V  T  V  V  T  S  L         p.180

          .         .         .         .         .        | 05.    g.8670
 TGCCGTCGCAGCAACGTCTGCACTCTCGTGAGGGGCCGGCAGGCCGGCGTCTGTTTC | GGG    c.600
 C  R  R  S  N  V  C  T  L  V  R  G  R  Q  A  G  V  C  F   | G      p.200

          .         .         .         .         .         .       g.8730
 GACTCCGGCAGCCCCTTGGTCTGCAACGGGCTAATCCACGGAATTGCCTCCTTCGTCCGG       c.660
 D  S  G  S  P  L  V  C  N  G  L  I  H  G  I  A  S  F  V  R         p.220

          .         .         .         .         .         .       g.8790
 GGAGGCTGCGCCTCAGGGCTCTACCCCGATGCCTTTGCCCCGGTGGCACAGTTTGTAAAC       c.720
 G  G  C  A  S  G  L  Y  P  D  A  F  A  P  V  A  Q  F  V  N         p.240

          .         .         .         .         .         .       g.8850
 TGGATCGACTCTATCATCCAACGCTCCGAGGACAACCCCTGTCCCCACCCCCGGGACCCG       c.780
 W  I  D  S  I  I  Q  R  S  E  D  N  P  C  P  H  P  R  D  P         p.260

          .         .                                               g.8874
 GACCCGGCCAGCAGGACCCACTGA                                           c.804
 D  P  A  S  R  T  H  X                                             p.267

          .         .         .         .         .         .       g.8934
 gaagggctgcccgggtcacctcagctgcccacacccacactctccagcatctggcacaat       c.*60

          .         .                                               g.8956
 aaacattctctgttttgtagaa                                             c.*82

 (downstream sequence)

Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10^th nucleotide is indicated by a "." above the sequence. The Elastase, neutrophil expressed protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.