Canonical Allele Identifier: CA580534442

Gene: HR

Linked Data

• dbSNP Id: rs1483343486
• gnomAD v2: 8-21973705-CTGCCTGCTTGGCACAGGGTGGG-C
• gnomAD v3: 8-22116192-CTGCCTGCTTGGCACAGGGTGGG-C
• gnomAD v4: 8-22116192-CTGCCTGCTTGGCACAGGGTGGG-C
• MyVariant Identifiers: chr8:g.21973706_21973727del (hg19) ; chr8:g.22116193_22116214del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116193_22116214del , CM000670.2:g.22116193_22116214del	GRCh38
NC_000008.10:g.21973706_21973727del , CM000670.1:g.21973706_21973727del	GRCh37
NC_000008.9:g.22029651_22029672del	NCBI36
NG_008166.1:g.19304_19325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3507+86_3507+107del MANE Select	ENSP00000370826.4:n.3507+86_3507+107del
ENST00000680789.1:c.3507+86_3507+107del	ENSP00000505181.1:n.3507+86_3507+107del
ENST00000312841.9:c.3342+86_3342+107del	ENSP00000326765.8:n.3342+86_3342+107del
ENST00000381418.8:c.3507+86_3507+107del	ENSP00000370826.4:n.3507+86_3507+107del
ENST00000522016.1:n.1700+86_1700+107del
NM_005144.4:c.3507+86_3507+107del	NP_005135.2:n.3507+86_3507+107del
NM_018411.4:c.3342+86_3342+107del	NP_060881.2:n.3342+86_3342+107del
XM_005273569.1:c.3510+86_3510+107del	XP_005273626.1:n.3510+86_3510+107del
XM_006716367.1:c.3345+86_3345+107del	XP_006716430.1:n.3345+86_3345+107del
XM_005273569.2:c.3510+86_3510+107del	XP_005273626.1:n.3510+86_3510+107del
XM_006716367.2:c.3345+86_3345+107del	XP_006716430.1:n.3345+86_3345+107del
NM_005144.5:c.3507+86_3507+107del MANE Select	NP_005135.2:n.3507+86_3507+107del