Canonical Allele Identifier: CA2647662027

Gene: GJA8

Linked Data

• gnomAD v4: 1-147908423-CTTCAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908424_147908429del , CM000663.2:g.147908424_147908429del	GRCh38
NC_000001.10:g.147380551_147380556del , CM000663.1:g.147380551_147380556del	GRCh37
NC_000001.9:g.145847175_145847180del	NCBI36
NG_016242.1:g.10606_10611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.469_474del MANE Select	ENSP00000358238.1:p.Phe157_Lys158del
ENST00000369235.1:c.469_474del	ENSP00000358238.1:p.Phe157_Lys158del
NM_005267.4:c.469_474del	NP_005258.2:p.Phe157_Lys158del
XM_011509416.1:c.469_474del	XP_011507718.1:p.Phe157_Lys158del
XM_011509417.1:c.469_474del	XP_011507719.1:p.Phe157_Lys158del
XM_011509417.2:c.469_474del	XP_011507719.1:p.Phe157_Lys158del
XR_002956281.1:n.1384_1389del
NM_005267.5:c.469_474del MANE Select	NP_005258.2:p.Phe157_Lys158del