Canonical Allele Identifier: CA580950568

Gene: HR

Linked Data

• gnomAD v2: 8-21981131-C-CT
• gnomAD v4: 8-22123618-C-CT
• MyVariant Identifiers: chr8:g.21981131_21981132insT (hg19) ; chr8:g.22123618_22123619insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123618_22123619insT , CM000670.2:g.22123618_22123619insT	GRCh38
NC_000008.10:g.21981131_21981132insT , CM000670.1:g.21981131_21981132insT	GRCh37
NC_000008.9:g.22037076_22037077insT	NCBI36
NG_008166.1:g.11899_11900insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1915+30_1915+31insA MANE Select	ENSP00000370826.4:n.1915+30_1915+31insA
ENST00000680789.1:c.1915+30_1915+31insA	ENSP00000505181.1:n.1915+30_1915+31insA
ENST00000312841.9:c.1915+30_1915+31insA	ENSP00000326765.8:n.1915+30_1915+31insA
ENST00000381418.8:c.1915+30_1915+31insA	ENSP00000370826.4:n.1915+30_1915+31insA
NM_005144.4:c.1915+30_1915+31insA	NP_005135.2:n.1915+30_1915+31insA
NM_018411.4:c.1915+30_1915+31insA	NP_060881.2:n.1915+30_1915+31insA
XM_005273569.1:c.1918+30_1918+31insA	XP_005273626.1:n.1918+30_1918+31insA
XM_006716367.1:c.1918+30_1918+31insA	XP_006716430.1:n.1918+30_1918+31insA
XM_005273569.2:c.1918+30_1918+31insA	XP_005273626.1:n.1918+30_1918+31insA
XM_006716367.2:c.1918+30_1918+31insA	XP_006716430.1:n.1918+30_1918+31insA
NM_005144.5:c.1915+30_1915+31insA MANE Select	NP_005135.2:n.1915+30_1915+31insA