(used for variant description)
(last modified December 29, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000975.3 in the RPL11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011741.1, covering RPL11 transcript NM_000975.3.
(upstream sequence)
. . . . g.5020
aaggccctcggccggaagctccgctttctcttcctgctctccatc c.-1
| 02 . . . . . . g.5859
ATGGCG | CAGGATCAAGGTGAAAAGGAGAACCCCATGCGGGAACTTCGCATCCGCAAACTC c.60
M A | Q D Q G E K E N P M R E L R I R K L p.20
. . . . . . g.5919
TGTCTCAACATCTGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGTGTTG c.120
C L N I C V G E S G D R L T R A A K V L p.40
. . . | 03. . . g.7026
GAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAG | CTAGATACACTGTCAGATCCTTT c.180
E Q L T G Q T P V F S K A | R Y T V R S F p.60
. . . . . . g.7086
GGCATCCGGAGAAATGAAAAGATTGCTGTCCACTGCACAGTTCGAGGGGCCAAGGCAGAA c.240
G I R R N E K I A V H C T V R G A K A E p.80
. . | 04 . . . . g.7892
GAAATCTTGGAGAAGGGTCTAAAG | GTGCGGGAGTATGAGTTAAGAAAAAACAACTTCTCA c.300
E I L E K G L K | V R E Y E L R K N N F S p.100
. . . . . . g.7952
GATACTGGAAACTTTGGTTTTGGGATCCAGGAACACATCGATCTGGGTATCAAATATGAC c.360
D T G N F G F G I Q E H I D L G I K Y D p.120
. . . | 05 . . . g.9018
CCAAGCATTGGTATCTACGGCCTGGACTTCTATGTG | GTGCTGGGTAGGCCAGGTTTCAGC c.420
P S I G I Y G L D F Y V | V L G R P G F S p.140
. . . . . . g.9078
ATCGCAGACAAGAAGCGCAGGACAGGCTGCATTGGGGCCAAACACAGAATCAGCAAAGAG c.480
I A D K K R R T G C I G A K H R I S K E p.160
. . | 06. . . g.9573
GAGGCCATGCGCTGGTTCCAGCAGAAG | TATGATGGGATCATCCTTCCTGGCAAATAA c.537
E A M R W F Q Q K | Y D G I I L P G K X p.178
. . . . . g.9625
attcccgtttctatccaaaagagcaataaaaagttttcagtgaaatgtgcaa c.*52
(downstream sequence)
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