Canonical Allele Identifier: CA2686436733

Gene: HR

Linked Data

• gnomAD v4: 8-22123618-C-CTTGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123618_22123619insTTGGGGGG , CM000670.2:g.22123618_22123619insTTGGGGGG	GRCh38
NC_000008.10:g.21981131_21981132insTTGGGGGG , CM000670.1:g.21981131_21981132insTTGGGGGG	GRCh37
NC_000008.9:g.22037076_22037077insTTGGGGGG	NCBI36
NG_008166.1:g.11899_11900insCCCCCCAA

Transcript Alleles

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