Canonical Allele Identifier: CA2686426395

Gene: HR

Linked Data

• gnomAD v4: 8-22123616-A-AGGGGGGGCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123616_22123617insGGGGGGGCCCCCC , CM000670.2:g.22123616_22123617insGGGGGGGCCCCCC	GRCh38
NC_000008.10:g.21981129_21981130insGGGGGGGCCCCCC , CM000670.1:g.21981129_21981130insGGGGGGGCCCCCC	GRCh37
NC_000008.9:g.22037074_22037075insGGGGGGGCCCCCC	NCBI36
NG_008166.1:g.11901_11902insGGGGGGCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1915+32_1915+33insGGGGGGCCCCCCC MANE Select	ENSP00000370826.4:n.1915+32_1915+33insGGGGGGCCCCCCC
ENST00000680789.1:c.1915+32_1915+33insGGGGGGCCCCCCC	ENSP00000505181.1:n.1915+32_1915+33insGGGGGGCCCCCCC
ENST00000312841.9:c.1915+32_1915+33insGGGGGGCCCCCCC	ENSP00000326765.8:n.1915+32_1915+33insGGGGGGCCCCCCC
ENST00000381418.8:c.1915+32_1915+33insGGGGGGCCCCCCC	ENSP00000370826.4:n.1915+32_1915+33insGGGGGGCCCCCCC
NM_005144.4:c.1915+32_1915+33insGGGGGGCCCCCCC	NP_005135.2:n.1915+32_1915+33insGGGGGGCCCCCCC
NM_018411.4:c.1915+32_1915+33insGGGGGGCCCCCCC	NP_060881.2:n.1915+32_1915+33insGGGGGGCCCCCCC
XM_005273569.1:c.1918+32_1918+33insGGGGGGCCCCCCC	XP_005273626.1:n.1918+32_1918+33insGGGGGGCCCCCCC
XM_006716367.1:c.1918+32_1918+33insGGGGGGCCCCCCC	XP_006716430.1:n.1918+32_1918+33insGGGGGGCCCCCCC
XM_005273569.2:c.1918+32_1918+33insGGGGGGCCCCCCC	XP_005273626.1:n.1918+32_1918+33insGGGGGGCCCCCCC
XM_006716367.2:c.1918+32_1918+33insGGGGGGCCCCCCC	XP_006716430.1:n.1918+32_1918+33insGGGGGGCCCCCCC
NM_005144.5:c.1915+32_1915+33insGGGGGGCCCCCCC MANE Select	NP_005135.2:n.1915+32_1915+33insGGGGGGCCCCCCC