Canonical Allele Identifier: CA2436387951

Gene: GJB1

Linked Data

• dbSNP Id: rs2092541140

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71223278_71223279insCACTCCCCCT , CM000685.2:g.71223278_71223279insCACTCCCCCT	GRCh38
NC_000023.10:g.70443128_70443129insCACTCCCCCT , CM000685.1:g.70443128_70443129insCACTCCCCCT	GRCh37
NC_000023.9:g.70359853_70359854insCACTCCCCCT	NCBI36
NG_008357.1:g.13067_13068insCACTCCCCCT , LRG_245:g.13067_13068insCACTCCCCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000361726.7:c.-74_-73insCACTCCCCCT MANE Select	ENSP00000354900.6:n.-74_-73insCACTCCCCCT
ENST00000374029.2:c.-16-414_-16-413insCACTCCCCCT	ENSP00000363141.1:n.-16-414_-16-413insCAC...
ENST00000447581.2:c.-16-414_-16-413insCACTCCCCCT	ENSP00000407223.2:n.-16-414_-16-413insCAC...
ENST00000645009.2:c.-16-414_-16-413insCACTCCCCCT	ENSP00000494142.2:n.-16-414_-16-413insCAC...
ENST00000646835.1:c.-74_-73insCACTCCCCCT	ENSP00000494596.1:n.-74_-73insCACTCCCCCT
ENST00000647424.1:c.-16-414_-16-413insCACTCCCCCT	ENSP00000495960.1:n.-16-414_-16-413insCAC...
ENST00000674549.1:c.-16-414_-16-413insCACTCCCCCT	ENSP00000502766.1:n.-16-414_-16-413insCAC...
ENST00000674844.1:c.-16-414_-16-413insCACTCCCCCT	ENSP00000502556.1:n.-16-414_-16-413insCAC...
ENST00000675209.1:c.-16-414_-16-413insCACTCCCCCT	ENSP00000501813.1:n.-16-414_-16-413insCAC...
ENST00000675368.1:c.-16-414_-16-413insCACTCCCCCT	ENSP00000501757.1:n.-16-414_-16-413insCAC...
ENST00000675609.1:c.-74_-73insCACTCCCCCT	ENSP00000501571.1:n.-74_-73insCACTCCCCCT
ENST00000361726.6:c.-74_-73insCACTCCCCCT	ENSP00000354900.6:n.-74_-73insCACTCCCCCT
ENST00000374022.3:c.-16-414_-16-413insCACTCCCCCT	ENSP00000363134.3:n.-16-414_-16-413insCAC...
ENST00000374029.1:c.-16-414_-16-413insCACTCCCCCT	ENSP00000363141.1:n.-16-414_-16-413insCAC...
ENST00000447581.1:c.-16-414_-16-413insCACTCCCCCT	ENSP00000407223.1:n.-16-414_-16-413insCAC...
NM_000166.5:c.-74_-73insCACTCCCCCT	NP_000157.1:n.-74_-73insCACTCCCCCT
NM_001097642.2:c.-16-414_-16-413insCACTCCCCCT , LRG_245t1:c.-16-414_-16-413insCACTCCCCCT	NP_001091111.1:n.-16-414_-16-413insCACTCC...
XM_011530907.1:c.-16-414_-16-413insCACTCCCCCT	XP_011529209.1:n.-16-414_-16-413insCACTCC...
XM_011530907.2:c.-16-414_-16-413insCACTCCCCCT	XP_011529209.1:n.-16-414_-16-413insCACTCC...
NM_000166.6:c.-74_-73insCACTCCCCCT MANE Select	NP_000157.1:n.-74_-73insCACTCCCCCT
NM_001097642.3:c.-16-414_-16-413insCACTCCCCCT	NP_001091111.1:n.-16-414_-16-413insCACTCC...