Canonical Allele Identifier: CA1111724351

Gene: HR

Linked Data

• gnomAD v3: 8-22123640-C-CCCCCCCCCCCCCCCCCT
• gnomAD v4: 8-22123640-C-CCCCCCCCCCCCCCCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123640_22123641insCCCCCCCCCCCCCCCCT , CM000670.2:g.22123640_22123641insCCCCCCCCCCCCCCCCT	GRCh38
NC_000008.10:g.21981153_21981154insCCCCCCCCCCCCCCCCT , CM000670.1:g.21981153_21981154insCCCCCCCCCCCCCCCCT	GRCh37
NC_000008.9:g.22037098_22037099insCCCCCCCCCCCCCCCCT	NCBI36
NG_008166.1:g.11877_11878insAGGGGGGGGGGGGGGGG

Transcript Alleles

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