Canonical Allele Identifier: CA1659501440

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446817_121446821delinsCTTTG , CM000668.2:g.121446817_121446821delinsCTTTG	GRCh38
NC_000006.11:g.121767963_121767967delinsCTTTG , CM000668.1:g.121767963_121767967delinsCTTTG	GRCh37
NC_000006.10:g.121809662_121809666delinsCTTTG	NCBI36
NG_008308.1:g.16219_16223delinsCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-15_-16-11delinsCTTTG MANE Select	ENSP00000282561.3:n.-16-15_-16-11delinsCTTTG
ENST00000647564.1:c.-16-15_-16-11delinsCTTTG	ENSP00000497565.1:n.-16-15_-16-11delinsCTTTG
ENST00000649003.1:c.-16-15_-16-11delinsCTTTG	ENSP00000497283.1:n.-16-15_-16-11delinsCTTTG
ENST00000650427.1:c.-16-15_-16-11delinsCTTTG	ENSP00000497367.1:n.-16-15_-16-11delinsCTTTG
ENST00000282561.3:c.-16-15_-16-11delinsCTTTG	ENSP00000282561.3:n.-16-15_-16-11delinsCTTTG
NM_000165.4:c.-16-15_-16-11delinsCTTTG	NP_000156.1:n.-16-15_-16-11delinsCTTTG
NM_000165.5:c.-16-15_-16-11delinsCTTTG MANE Select	NP_000156.1:n.-16-15_-16-11delinsCTTTG