Canonical Allele Identifier: CA2830782592

Gene: GJA8

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908088_147908097del , CM000663.2:g.147908088_147908097del	GRCh38
NC_000001.10:g.147380215_147380224del , CM000663.1:g.147380215_147380224del	GRCh37
NC_000001.9:g.145846839_145846848del	NCBI36
NG_016242.1:g.10270_10279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.133_142del MANE Select	ENSP00000358238.1:p.Trp45SerfsTer?
ENST00000369235.1:c.133_142del	ENSP00000358238.1:p.Trp45SerfsTer?
NM_005267.4:c.133_142del	NP_005258.2:p.Trp45SerfsTer?
XM_011509416.1:c.133_142del	XP_011507718.1:p.Trp45SerfsTer?
XM_011509417.1:c.133_142del	XP_011507719.1:p.Trp45SerfsTer?
XM_011509417.2:c.133_142del	XP_011507719.1:p.Trp45SerfsTer?
XR_002956281.1:n.1048_1057del
NM_005267.5:c.133_142del MANE Select	NP_005258.2:p.Trp45SerfsTer?