Canonical Allele Identifier: CA2647575226

Gene: HJV

Linked Data

• gnomAD v4: 1-146018191-TGGCAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018192_146018197del , CM000663.2:g.146018192_146018197del	GRCh38
NC_000001.10:g.145416816_145416821del , CM000663.1:g.145416816_145416821del	GRCh37
NC_000001.9:g.144128173_144128178del	NCBI36
NG_011568.1:g.8626_8631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.1161_1166del MANE Select	ENSP00000337014.5:p.Phe387_Pro389delinsLeu
ENST00000636675.1:c.483_488del	ENSP00000490072.1:p.Phe161_Pro163delinsLeu
ENST00000336751.10:c.1161_1166del	ENSP00000337014.5:p.Phe387_Pro389delinsLeu
ENST00000357836.5:c.822_827del	ENSP00000350495.5:p.Phe274_Pro276delinsLeu
ENST00000475797.1:c.483_488del	ENSP00000425716.1:p.Phe161_Pro163delinsLeu
ENST00000497365.5:c.483_488del	ENSP00000421820.1:p.Phe161_Pro163delinsLeu
NM_001316767.1:c.483_488del	NP_001303696.1:p.Phe161_Pro163delinsLeu
NM_145277.4:c.822_827del	NP_660320.3:p.Phe274_Pro276delinsLeu
NM_202004.3:c.483_488del	NP_973733.1:p.Phe161_Pro163delinsLeu
NM_213652.3:c.483_488del	NP_998817.1:p.Phe161_Pro163delinsLeu
NM_213653.3:c.1161_1166del	NP_998818.1:p.Phe387_Pro389delinsLeu
XM_005272932.1:c.1161_1166del	XP_005272989.1:p.Phe387_Pro389delinsLeu
NM_001316767.2:c.483_488del	NP_001303696.1:p.Phe161_Pro163delinsLeu
NM_145277.5:c.822_827del	NP_660320.3:p.Phe274_Pro276delinsLeu
NM_202004.4:c.483_488del	NP_973733.1:p.Phe161_Pro163delinsLeu
NM_213652.4:c.483_488del	NP_998817.1:p.Phe161_Pro163delinsLeu
NM_001379352.1:c.1161_1166del	NP_001366281.1:p.Phe387_Pro389delinsLeu
NM_213653.4:c.1161_1166del MANE Select	NP_998818.1:p.Phe387_Pro389delinsLeu