(used for variant description)
(last modified December 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_004218.3 in the RAB11B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering RAB11B transcript NM_004218.3.
(upstream sequence)
. . . g.5036
cattcaaccgccgctctgcgcggcgccggctccgcc c.-61
. . . . . . g.5096
cccgtcgggtgtttgtggtggggctgcggagtcgccgatcccgccggaagcgccaggaca c.-1
. . . . | 02 . . g.14562
ATGGGGACCCGGGACGACGAGTACGACTACCTATTCAAAG | TGGTGCTCATCGGGGACTCA c.60
M G T R D D E Y D Y L F K V | V L I G D S p.20
. . . . . . g.14622
GGCGTGGGCAAGAGCAACCTGCTGTCGCGCTTCACCCGCAACGAGTTCAACCTGGAGAGC c.120
G V G K S N L L S R F T R N E F N L E S p.40
. . . . . . g.14682
AAGAGCACCATCGGCGTGGAGTTCGCCACCCGCAGCATCCAGGTGGACGGCAAGACCATC c.180
K S T I G V E F A T R S I Q V D G K T I p.60
. . . . . | 03 . g.16769
AAGGCGCAGATCTGGGACACCGCTGGCCAGGAGCGCTACCGCGCCATCACCTCCGC | GTAC c.240
K A Q I W D T A G Q E R Y R A I T S A | Y p.80
. . . . . . g.16829
TACCGTGGTGCAGTGGGCGCCCTGCTGGTGTACGACATCGCCAAGCACCTGACCTATGAG c.300
Y R G A V G A L L V Y D I A K H L T Y E p.100
. . . . . . g.16889
AACGTGGAGCGCTGGCTGAAGGAGCTGCGGGACCACGCAGACAGCAACATCGTCATCATG c.360
N V E R W L K E L R D H A D S N I V I M p.120
. . . . . . g.16949
CTGGTGGGCAACAAGAGTGACCTGCGCCACCTGCGGGCTGTGCCCACTGACGAGGCCCGC c.420
L V G N K S D L R H L R A V P T D E A R p.140
. | 04 . . . . . g.17214
GCCTTCGCAG | AAAAGAACAACTTGTCCTTCATCGAGACCTCAGCCTTGGATTCCACTAAC c.480
A F A E | K N N L S F I E T S A L D S T N p.160
. . . | 05 . . . g.18121
GTAGAGGAAGCATTCAAGAACATCCTCACAG | AGATCTACCGCATCGTGTCACAGAAACAG c.540
V E E A F K N I L T E | I Y R I V S Q K Q p.180
. . . . . . g.18181
ATCGCAGACCGCGCTGCCCACGACGAGTCCCCGGGGAACAACGTGGTGGACATCAGCGTG c.600
I A D R A A H D E S P G N N V V D I S V p.200
. . . . . g.18238
CCGCCCACCACGGACGGACAGAAGCCCAACAAGCTGCAGTGCTGCCAGAACCTGTGA c.657
P P T T D G Q K P N K L Q C C Q N L X p.218
. . . . . . g.18298
cccctgcgcctccacccagcgtgcgtgcacgtcctccgcccgcccccgccacggtatcct c.*60
. . . . . . g.18358
ctggcccctccctgctgtccctctgtggccggctcgttccagccctcccagtgagctctg c.*120
. . . . . . g.18418
cacggccgggccggggcccaggaaggacaggagccagtgctaccccgtcctgcccgggga c.*180
. . . . . . g.18478
aaagctagaagccccggtttgctgcacccatgaaactcgggtccccacagcgtcttggcg c.*240
. . . . . . g.18538
gggtggggagggcggcaggatggacggggctggccagaggcgaggaggacgggcggacgg c.*300
. . . . . . g.18598
cgccgccttctccccttttccttggccgactctagggagcgattgcctccctccctccgt c.*360
. . . . . . g.18658
gaccgggtggcccagccagcccgtcgtccccacccagaaccgtgctctgggccaaagccc c.*420
. . . . . . g.18718
gaagaaccaggcagcgggggccggggcaggcggaccccccgggctctcagcgcccacccg c.*480
. . . . . . g.18778
ctcctccgcacacagcagctcgcacaggcctcccacctctgcctgttgattgatgcaggg c.*540
. . . . . . g.18838
agaagcccgtccccccctctcccctctcccctcccctctcctgcacgcaacgcgccctct c.*600
. . . . . . g.18898
cggccctccctgtccccctcctctgtctcgtctccccatctggtctggaacctgtttgca c.*660
. . . . . . g.18958
agtgaagcaatatctccgtgttttgtatatacaaccgctcttgtagcctttggtttttgt c.*720
. . . . . . g.19018
taatgtagagaaacacagattctttatacactttgtaagatttacgccaaaccccagctc c.*780
. . . . . . g.19078
tcgatctcttcttctccctgtggcccctgcgctgttgccccgtccccgtcaccccgcccg c.*840
. . . g.19114
ttactgaaatgtataatctgacttcctgtacagaaa c.*876
(downstream sequence)
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