Canonical Allele Identifier: CA2686433666

Gene: HR

Linked Data

• gnomAD v4: 8-22123617-T-TTGGGCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123617_22123618insTGGGCCCCCCCCC , CM000670.2:g.22123617_22123618insTGGGCCCCCCCCC	GRCh38
NC_000008.10:g.21981130_21981131insTGGGCCCCCCCCC , CM000670.1:g.21981130_21981131insTGGGCCCCCCCCC	GRCh37
NC_000008.9:g.22037075_22037076insTGGGCCCCCCCCC	NCBI36
NG_008166.1:g.11900_11901insGGGGGGGGGCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1915+31_1915+32insGGGGGGGGGCCCA MANE Select	ENSP00000370826.4:n.1915+31_1915+32insGGGGGGGGGCCCA
ENST00000680789.1:c.1915+31_1915+32insGGGGGGGGGCCCA	ENSP00000505181.1:n.1915+31_1915+32insGGGGGGGGGCCCA
ENST00000312841.9:c.1915+31_1915+32insGGGGGGGGGCCCA	ENSP00000326765.8:n.1915+31_1915+32insGGGGGGGGGCCCA
ENST00000381418.8:c.1915+31_1915+32insGGGGGGGGGCCCA	ENSP00000370826.4:n.1915+31_1915+32insGGGGGGGGGCCCA
NM_005144.4:c.1915+31_1915+32insGGGGGGGGGCCCA	NP_005135.2:n.1915+31_1915+32insGGGGGGGGGCCCA
NM_018411.4:c.1915+31_1915+32insGGGGGGGGGCCCA	NP_060881.2:n.1915+31_1915+32insGGGGGGGGGCCCA
XM_005273569.1:c.1918+31_1918+32insGGGGGGGGGCCCA	XP_005273626.1:n.1918+31_1918+32insGGGGGGGGGCCCA
XM_006716367.1:c.1918+31_1918+32insGGGGGGGGGCCCA	XP_006716430.1:n.1918+31_1918+32insGGGGGGGGGCCCA
XM_005273569.2:c.1918+31_1918+32insGGGGGGGGGCCCA	XP_005273626.1:n.1918+31_1918+32insGGGGGGGGGCCCA
XM_006716367.2:c.1918+31_1918+32insGGGGGGGGGCCCA	XP_006716430.1:n.1918+31_1918+32insGGGGGGGGGCCCA
NM_005144.5:c.1915+31_1915+32insGGGGGGGGGCCCA MANE Select	NP_005135.2:n.1915+31_1915+32insGGGGGGGGGCCCA