Canonical Allele Identifier: CA888540702

Gene: HJV

Linked Data

• dbSNP Id: rs1168569079
• gnomAD v3: 1-146019878-CCCCTAGT-C
• gnomAD v4: 1-146019878-CCCCTAGT-C
• MyVariant Identifiers: chr1:g.146019879_146019885del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019886_146019892del , CM000663.2:g.146019886_146019892del	GRCh38
NC_000001.10:g.145415128_145415134del , CM000663.1:g.145415128_145415134del	GRCh37
NC_000001.9:g.144126485_144126491del	NCBI36
NG_011568.1:g.6938_6944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.98-151_98-145del MANE Select	ENSP00000337014.5:n.98-151_98-145del
ENST00000636675.1:c.-58-151_-58-145del	ENSP00000490072.1:n.-58-151_-58-145del
ENST00000336751.10:c.98-151_98-145del	ENSP00000337014.5:n.98-151_98-145del
ENST00000357836.5:c.-242-151_-242-145del	ENSP00000350495.5:n.-242-151_-242-145del
ENST00000421822.2:c.98-151_98-145del	ENSP00000411863.2:n.98-151_98-145del
ENST00000475797.1:c.-21-1185_-21-1179del	ENSP00000425716.1:n.-21-1185_-21-1179del
ENST00000497365.5:c.-58-151_-58-145del	ENSP00000421820.1:n.-58-151_-58-145del
ENST00000634927.1:c.98-151_98-145del	ENSP00000489347.1:n.98-151_98-145del
NM_001316767.1:c.-58-151_-58-145del	NP_001303696.1:n.-58-151_-58-145del
NM_145277.4:c.-242-151_-242-145del	NP_660320.3:n.-242-151_-242-145del
NM_202004.3:c.-58-151_-58-145del	NP_973733.1:n.-58-151_-58-145del
NM_213652.3:c.-21-1185_-21-1179del	NP_998817.1:n.-21-1185_-21-1179del
NM_213653.3:c.98-151_98-145del	NP_998818.1:n.98-151_98-145del
XM_005272932.1:c.98-151_98-145del	XP_005272989.1:n.98-151_98-145del
NM_001316767.2:c.-58-151_-58-145del	NP_001303696.1:n.-58-151_-58-145del
NM_145277.5:c.-242-151_-242-145del	NP_660320.3:n.-242-151_-242-145del
NM_202004.4:c.-58-151_-58-145del	NP_973733.1:n.-58-151_-58-145del
NM_213652.4:c.-21-1185_-21-1179del	NP_998817.1:n.-21-1185_-21-1179del
NM_001379352.1:c.98-151_98-145del	NP_001366281.1:n.98-151_98-145del
NM_213653.4:c.98-151_98-145del MANE Select	NP_998818.1:n.98-151_98-145del