Canonical Allele Identifier: CA2647575842

Gene: HJV

Linked Data

• gnomAD v4: 1-146019625-GCCTCCTCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019636_146019644del , CM000663.2:g.146019636_146019644del	GRCh38
NC_000001.10:g.145415379_145415387del , CM000663.1:g.145415379_145415387del	GRCh37
NC_000001.9:g.144126736_144126744del	NCBI36
NG_011568.1:g.7189_7197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.198_206del MANE Select	ENSP00000337014.5:p.Gly67_Gly69del
ENST00000636675.1:c.-22+64_-22+72del	ENSP00000490072.1:n.-22+64_-22+72del
ENST00000336751.10:c.198_206del	ENSP00000337014.5:p.Gly67_Gly69del
ENST00000357836.5:c.-142_-134del	ENSP00000350495.5:n.-142_-134del
ENST00000421822.2:c.198_206del	ENSP00000411863.2:p.Gly67_Gly69del
ENST00000475797.1:c.-21-934_-21-926del	ENSP00000425716.1:n.-21-934_-21-926del
ENST00000497365.5:c.-22+64_-22+72del	ENSP00000421820.1:n.-22+64_-22+72del
ENST00000634927.1:c.134+64_134+72del	ENSP00000489347.1:n.134+64_134+72del
NM_001316767.1:c.-22+64_-22+72del	NP_001303696.1:n.-22+64_-22+72del
NM_145277.4:c.-142_-134del	NP_660320.3:n.-142_-134del
NM_202004.3:c.-22+64_-22+72del	NP_973733.1:n.-22+64_-22+72del
NM_213652.3:c.-21-934_-21-926del	NP_998817.1:n.-21-934_-21-926del
NM_213653.3:c.198_206del	NP_998818.1:p.Gly67_Gly69del
XM_005272932.1:c.198_206del	XP_005272989.1:p.Gly67_Gly69del
NM_001316767.2:c.-22+64_-22+72del	NP_001303696.1:n.-22+64_-22+72del
NM_145277.5:c.-142_-134del	NP_660320.3:n.-142_-134del
NM_202004.4:c.-22+64_-22+72del	NP_973733.1:n.-22+64_-22+72del
NM_213652.4:c.-21-934_-21-926del	NP_998817.1:n.-21-934_-21-926del
NM_001379352.1:c.198_206del	NP_001366281.1:p.Gly67_Gly69del
NM_213653.4:c.198_206del MANE Select	NP_998818.1:p.Gly67_Gly69del