Canonical Allele Identifier: CA2647575157

Gene: HJV

Linked Data

• gnomAD v4: 1-146017954-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146017956del , CM000663.2:g.146017956del	GRCh38
NC_000001.10:g.145417058del , CM000663.1:g.145417058del	GRCh37
NC_000001.9:g.144128415del	NCBI36
NG_011568.1:g.8868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.*122del MANE Select	ENSP00000337014.5:n.*122del
ENST00000636675.1:c.*122del	ENSP00000490072.1:n.*122del
ENST00000336751.10:c.*122del	ENSP00000337014.5:n.*122del
ENST00000357836.5:c.*122del	ENSP00000350495.5:n.*122del
ENST00000475797.1:c.*122del	ENSP00000425716.1:n.*122del
ENST00000497365.5:c.*122del	ENSP00000421820.1:n.*122del
NM_001316767.1:c.*122del	NP_001303696.1:n.*122del
NM_145277.4:c.*122del	NP_660320.3:n.*122del
NM_202004.3:c.*122del	NP_973733.1:n.*122del
NM_213652.3:c.*122del	NP_998817.1:n.*122del
NM_213653.3:c.*122del	NP_998818.1:n.*122del
XM_005272932.1:c.*122del	XP_005272989.1:n.*122del
NM_001316767.2:c.*122del	NP_001303696.1:n.*122del
NM_145277.5:c.*122del	NP_660320.3:n.*122del
NM_202004.4:c.*122del	NP_973733.1:n.*122del
NM_213652.4:c.*122del	NP_998817.1:n.*122del
NM_001379352.1:c.*122del	NP_001366281.1:n.*122del
NM_213653.4:c.*122del MANE Select	NP_998818.1:n.*122del