Canonical Allele Identifier: CA1659501327

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446551_121446577delinsTGGTTGAGCAAGCAATACACCTTCCCA , CM000668.2:g.121446551_121446577delinsTGGTTGAGCAAGCAATACACCTTCCCA	GRCh38
NC_000006.11:g.121767697_121767723delinsTGGTTGAGCAAGCAATACACCTTCCCA , CM000668.1:g.121767697_121767723delinsTGGTTGAGCAAGCAATACACCTTCCCA	GRCh37
NC_000006.10:g.121809396_121809422delinsTGGTTGAGCAAGCAATACACCTTCCCA	NCBI36
NG_008308.1:g.15953_15979delinsTGGTTGAGCAAGCAATACACCTTCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-281_-16-255delinsTGGTTGAGCAAGCAATACACCTTCCCA MANE Select	ENSP00000282561.3:n.-16-281_-16-255delinsTGGTTGAGCAAGCAATACAC...
ENST00000647564.1:c.-16-281_-16-255delinsTGGTTGAGCAAGCAATACACCTTCCCA	ENSP00000497565.1:n.-16-281_-16-255delinsTGGTTGAGCAAGCAATACAC...
ENST00000649003.1:c.-16-281_-16-255delinsTGGTTGAGCAAGCAATACACCTTCCCA	ENSP00000497283.1:n.-16-281_-16-255delinsTGGTTGAGCAAGCAATACAC...
ENST00000650427.1:c.-16-281_-16-255delinsTGGTTGAGCAAGCAATACACCTTCCCA	ENSP00000497367.1:n.-16-281_-16-255delinsTGGTTGAGCAAGCAATACAC...
ENST00000282561.3:c.-16-281_-16-255delinsTGGTTGAGCAAGCAATACACCTTCCCA	ENSP00000282561.3:n.-16-281_-16-255delinsTGGTTGAGCAAGCAATACAC...
NM_000165.4:c.-16-281_-16-255delinsTGGTTGAGCAAGCAATACACCTTCCCA	NP_000156.1:n.-16-281_-16-255delinsTGGTTGAGCAAGCAATACACCTTCCC...
NM_000165.5:c.-16-281_-16-255delinsTGGTTGAGCAAGCAATACACCTTCCCA MANE Select	NP_000156.1:n.-16-281_-16-255delinsTGGTTGAGCAAGCAATACACCTTCCC...