Canonical Allele Identifier: CA2686426385

Gene: HR

Linked Data

• gnomAD v4: 8-22123616-A-AGGGGGGGGGCGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123616_22123617insGGGGGGGGGCGGC , CM000670.2:g.22123616_22123617insGGGGGGGGGCGGC	GRCh38
NC_000008.10:g.21981129_21981130insGGGGGGGGGCGGC , CM000670.1:g.21981129_21981130insGGGGGGGGGCGGC	GRCh37
NC_000008.9:g.22037074_22037075insGGGGGGGGGCGGC	NCBI36
NG_008166.1:g.11901_11902insGCCGCCCCCCCCC

Transcript Alleles

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