Canonical Allele Identifier: CA1198821538

Gene: HJV

Linked Data

• dbSNP Id: rs1652605114
• gnomAD v4: 1-146019807-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019810_146019811del , CM000663.2:g.146019810_146019811del	GRCh38
NC_000001.10:g.145415204_145415205del , CM000663.1:g.145415204_145415205del	GRCh37
NC_000001.9:g.144126561_144126562del	NCBI36
NG_011568.1:g.7014_7015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.98-75_98-74del MANE Select	ENSP00000337014.5:n.98-75_98-74del
ENST00000636675.1:c.-58-75_-58-74del	ENSP00000490072.1:n.-58-75_-58-74del
ENST00000336751.10:c.98-75_98-74del	ENSP00000337014.5:n.98-75_98-74del
ENST00000357836.5:c.-242-75_-242-74del	ENSP00000350495.5:n.-242-75_-242-74del
ENST00000421822.2:c.98-75_98-74del	ENSP00000411863.2:n.98-75_98-74del
ENST00000475797.1:c.-21-1109_-21-1108del	ENSP00000425716.1:n.-21-1109_-21-1108del
ENST00000497365.5:c.-58-75_-58-74del	ENSP00000421820.1:n.-58-75_-58-74del
ENST00000634927.1:c.98-75_98-74del	ENSP00000489347.1:n.98-75_98-74del
NM_001316767.1:c.-58-75_-58-74del	NP_001303696.1:n.-58-75_-58-74del
NM_145277.4:c.-242-75_-242-74del	NP_660320.3:n.-242-75_-242-74del
NM_202004.3:c.-58-75_-58-74del	NP_973733.1:n.-58-75_-58-74del
NM_213652.3:c.-21-1109_-21-1108del	NP_998817.1:n.-21-1109_-21-1108del
NM_213653.3:c.98-75_98-74del	NP_998818.1:n.98-75_98-74del
XM_005272932.1:c.98-75_98-74del	XP_005272989.1:n.98-75_98-74del
NM_001316767.2:c.-58-75_-58-74del	NP_001303696.1:n.-58-75_-58-74del
NM_145277.5:c.-242-75_-242-74del	NP_660320.3:n.-242-75_-242-74del
NM_202004.4:c.-58-75_-58-74del	NP_973733.1:n.-58-75_-58-74del
NM_213652.4:c.-21-1109_-21-1108del	NP_998817.1:n.-21-1109_-21-1108del
NM_001379352.1:c.98-75_98-74del	NP_001366281.1:n.98-75_98-74del
NM_213653.4:c.98-75_98-74del MANE Select	NP_998818.1:n.98-75_98-74del