Canonical Allele Identifier: CA580950550

Gene: HR

Linked Data

• dbSNP Id: rs1563180402
• gnomAD v2: 8-21981129-A-AAGCCCCCCC
• MyVariant Identifiers: chr8:g.21981129_21981130insAGCCCCCCC (hg19) ; chr8:g.22123616_22123617insAGCCCCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123616_22123617insAGCCCCCCC , CM000670.2:g.22123616_22123617insAGCCCCCCC	GRCh38
NC_000008.10:g.21981129_21981130insAGCCCCCCC , CM000670.1:g.21981129_21981130insAGCCCCCCC	GRCh37
NC_000008.9:g.22037074_22037075insAGCCCCCCC	NCBI36
NG_008166.1:g.11901_11902insGGGGGGGCT

Transcript Alleles

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