Canonical Allele Identifier: CA4662307

Gene: HR

Linked Data

• dbSNP Id: rs773830351
• ExAC: 8:21981130 T / TTC
• gnomAD v2: 8-21981130-T-TTC
• gnomAD v3: 8-22123617-T-TTC
• gnomAD v4: 8-22123617-T-TTC
• COSMIC: COSN2528781
• MyVariant Identifiers: chr8:g.21981130_21981131insTC (hg19) ; chr8:g.22123617_22123618insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123617_22123618insTC , CM000670.2:g.22123617_22123618insTC	GRCh38
NC_000008.10:g.21981130_21981131insTC , CM000670.1:g.21981130_21981131insTC	GRCh37
NC_000008.9:g.22037075_22037076insTC	NCBI36
NG_008166.1:g.11900_11901insGA

Transcript Alleles

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