Canonical Allele Identifier: CA1111724015

Gene: HR

Linked Data

• dbSNP Id: rs2131760037
• gnomAD v3: 8-22123616-ATCCC-A
• gnomAD v4: 8-22123616-ATCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123617_22123620del , CM000670.2:g.22123617_22123620del	GRCh38
NC_000008.10:g.21981130_21981133del , CM000670.1:g.21981130_21981133del	GRCh37
NC_000008.9:g.22037075_22037078del	NCBI36
NG_008166.1:g.11898_11901del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381418.9:c.1915+29_1915+32del MANE Select	ENSP00000370826.4:n.1915+29_1915+32del
ENST00000680789.1:c.1915+29_1915+32del	ENSP00000505181.1:n.1915+29_1915+32del
ENST00000312841.9:c.1915+29_1915+32del	ENSP00000326765.8:n.1915+29_1915+32del
ENST00000381418.8:c.1915+29_1915+32del	ENSP00000370826.4:n.1915+29_1915+32del
NM_005144.4:c.1915+29_1915+32del	NP_005135.2:n.1915+29_1915+32del
NM_018411.4:c.1915+29_1915+32del	NP_060881.2:n.1915+29_1915+32del
XM_005273569.1:c.1918+29_1918+32del	XP_005273626.1:n.1918+29_1918+32del
XM_006716367.1:c.1918+29_1918+32del	XP_006716430.1:n.1918+29_1918+32del
XM_005273569.2:c.1918+29_1918+32del	XP_005273626.1:n.1918+29_1918+32del
XM_006716367.2:c.1918+29_1918+32del	XP_006716430.1:n.1918+29_1918+32del
NM_005144.5:c.1915+29_1915+32del MANE Select	NP_005135.2:n.1915+29_1915+32del