Canonical Allele Identifier: CA2574049964

Gene: GJA5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147759154_147759156del , CM000663.2:g.147759154_147759156del	GRCh38
NC_000001.10:g.147231262_147231264del , CM000663.1:g.147231262_147231264del	GRCh37
NC_000001.9:g.145697886_145697888del	NCBI36
NG_009369.2:g.19221_19223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.85_87del MANE Select	ENSP00000463851.1:p.Leu29del
ENST00000430508.1:c.85_87del	ENSP00000407645.1:p.Leu29del
ENST00000579774.2:c.85_87del	ENSP00000463851.1:p.Leu29del
ENST00000621517.1:c.85_87del	ENSP00000484552.1:p.Leu29del
NM_005266.6:c.85_87del	NP_005257.2:p.Leu29del
NM_181703.3:c.85_87del	NP_859054.1:p.Leu29del
XM_005272951.3:c.85_87del	XP_005273008.1:p.Leu29del
XM_011509415.1:c.85_87del	XP_011507717.1:p.Leu29del
XR_922078.1:n.434-18407_434-18405del
XR_922079.1:n.434-18407_434-18405del
XM_005272951.4:c.85_87del	XP_005273008.1:p.Leu29del
XM_017001044.1:c.85_87del	XP_016856533.1:p.Leu29del
XR_922079.3:n.744-18407_744-18405del
NM_181703.4:c.85_87del MANE Select	NP_859054.1:p.Leu29del
NM_005266.7:c.85_87del	NP_005257.2:p.Leu29del