Canonical Allele Identifier: CA2740090250

Gene: GJA5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758545del , CM000663.2:g.147758545del	GRCh38
NC_000001.10:g.147230653del , CM000663.1:g.147230653del	GRCh37
NC_000001.9:g.145697277del	NCBI36
NG_009369.2:g.19831del

Transcript Alleles

HGVS	Amino-acid Change
NM_181703.4:c.695del MANE Select	NP_859054.1:p.Lys232ArgfsTer26
ENST00000579774.3:c.695del MANE Select	ENSP00000463851.1:p.Lys232ArgfsTer26
NM_005266.6:c.695del	NP_005257.2:p.Lys232ArgfsTer26
NM_005266.7:c.695del	NP_005257.2:p.Lys232ArgfsTer26
NM_181703.3:c.695del	NP_859054.1:p.Lys232ArgfsTer26
ENST00000430508.1:c.695del	ENSP00000407645.1:p.Lys232ArgfsTer?
ENST00000579774.2:c.695del	ENSP00000463851.1:p.Lys232ArgfsTer26
ENST00000621517.1:c.695del	ENSP00000484552.1:p.Lys232ArgfsTer26
XM_005272951.3:c.695del	XP_005273008.1:p.Lys232ArgfsTer26
XM_005272951.4:c.695del	XP_005273008.1:p.Lys232ArgfsTer26
XM_011509415.1:c.695del	XP_011507717.1:p.Lys232ArgfsTer26
XM_017001044.1:c.695del	XP_016856533.1:p.Lys232ArgfsTer26
XR_922078.1:n.434-19016del
XR_922079.1:n.434-19016del
XR_922079.3:n.744-19016del