Canonical Allele Identifier: CA645528642

Gene: GJA5

Linked Data

• COSMIC: COSM332339

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147759019_147759020delinsTT , CM000663.2:g.147759019_147759020delinsTT	GRCh38
NC_000001.10:g.147231127_147231128delinsTT , CM000663.1:g.147231127_147231128delinsTT	GRCh37
NC_000001.9:g.145697751_145697752delinsTT	NCBI36
NG_009369.2:g.19355_19356delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.219_220delinsAA MANE Select	ENSP00000463851.1:p.His74Asn
ENST00000430508.1:c.219_220delinsAA	ENSP00000407645.1:p.His74Asn
ENST00000579774.2:c.219_220delinsAA	ENSP00000463851.1:p.His74Asn
ENST00000621517.1:c.219_220delinsAA	ENSP00000484552.1:p.His74Asn
NM_005266.6:c.219_220delinsAA	NP_005257.2:p.His74Asn
NM_181703.3:c.219_220delinsAA	NP_859054.1:p.His74Asn
XM_005272951.3:c.219_220delinsAA	XP_005273008.1:p.His74Asn
XM_011509415.1:c.219_220delinsAA	XP_011507717.1:p.His74Asn
XR_922078.1:n.434-18542_434-18541delinsTT
XR_922079.1:n.434-18542_434-18541delinsTT
XM_005272951.4:c.219_220delinsAA	XP_005273008.1:p.His74Asn
XM_017001044.1:c.219_220delinsAA	XP_016856533.1:p.His74Asn
XR_922079.3:n.744-18542_744-18541delinsTT
NM_181703.4:c.219_220delinsAA MANE Select	NP_859054.1:p.His74Asn
NM_005266.7:c.219_220delinsAA	NP_005257.2:p.His74Asn