Canonical Allele Identifier: CA2586967200

Gene: GJA8

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908385_147908399del , CM000663.2:g.147908385_147908399del	GRCh38
NC_000001.10:g.147380512_147380526del , CM000663.1:g.147380512_147380526del	GRCh37
NC_000001.9:g.145847136_145847150del	NCBI36
NG_016242.1:g.10567_10581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.430_444del MANE Select	ENSP00000358238.1:p.Glu144_Leu148del
ENST00000369235.1:c.430_444del	ENSP00000358238.1:p.Glu144_Leu148del
NM_005267.4:c.430_444del	NP_005258.2:p.Glu144_Leu148del
XM_011509416.1:c.430_444del	XP_011507718.1:p.Glu144_Leu148del
XM_011509417.1:c.430_444del	XP_011507719.1:p.Glu144_Leu148del
XM_011509417.2:c.430_444del	XP_011507719.1:p.Glu144_Leu148del
XR_002956281.1:n.1345_1359del
NM_005267.5:c.430_444del MANE Select	NP_005258.2:p.Glu144_Leu148del