Canonical Allele Identifier: CA2686425918

Gene: HR

Linked Data

• gnomAD v4: 8-22123590-C-CCACACACAGCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123590_22123591insCACACACAGCCGG , CM000670.2:g.22123590_22123591insCACACACAGCCGG	GRCh38
NC_000008.10:g.21981103_21981104insCACACACAGCCGG , CM000670.1:g.21981103_21981104insCACACACAGCCGG	GRCh37
NC_000008.9:g.22037048_22037049insCACACACAGCCGG	NCBI36
NG_008166.1:g.11927_11928insCCGGCTGTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1915+58_1915+59insCCGGCTGTGTGTG MANE Select	ENSP00000370826.4:n.1915+58_1915+59insCCGGCTGTGTGTG
ENST00000680789.1:c.1915+58_1915+59insCCGGCTGTGTGTG	ENSP00000505181.1:n.1915+58_1915+59insCCGGCTGTGTGTG
ENST00000312841.9:c.1915+58_1915+59insCCGGCTGTGTGTG	ENSP00000326765.8:n.1915+58_1915+59insCCGGCTGTGTGTG
ENST00000381418.8:c.1915+58_1915+59insCCGGCTGTGTGTG	ENSP00000370826.4:n.1915+58_1915+59insCCGGCTGTGTGTG
NM_005144.4:c.1915+58_1915+59insCCGGCTGTGTGTG	NP_005135.2:n.1915+58_1915+59insCCGGCTGTGTGTG
NM_018411.4:c.1915+58_1915+59insCCGGCTGTGTGTG	NP_060881.2:n.1915+58_1915+59insCCGGCTGTGTGTG
XM_005273569.1:c.1918+58_1918+59insCCGGCTGTGTGTG	XP_005273626.1:n.1918+58_1918+59insCCGGCTGTGTGTG
XM_006716367.1:c.1918+58_1918+59insCCGGCTGTGTGTG	XP_006716430.1:n.1918+58_1918+59insCCGGCTGTGTGTG
XM_005273569.2:c.1918+58_1918+59insCCGGCTGTGTGTG	XP_005273626.1:n.1918+58_1918+59insCCGGCTGTGTGTG
XM_006716367.2:c.1918+58_1918+59insCCGGCTGTGTGTG	XP_006716430.1:n.1918+58_1918+59insCCGGCTGTGTGTG
NM_005144.5:c.1915+58_1915+59insCCGGCTGTGTGTG MANE Select	NP_005135.2:n.1915+58_1915+59insCCGGCTGTGTGTG