Canonical Allele Identifier: CA580534529

Gene: HR

Linked Data

• gnomAD v2: 8-21974040-CGA-C
• gnomAD v3: 8-22116527-CGA-C
• gnomAD v4: 8-22116527-CGA-C
• MyVariant Identifiers: chr8:g.21974041_21974042del (hg19) ; chr8:g.22116528_22116529del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116528_22116529del , CM000670.2:g.22116528_22116529del	GRCh38
NC_000008.10:g.21974041_21974042del , CM000670.1:g.21974041_21974042del	GRCh37
NC_000008.9:g.22029986_22029987del	NCBI36
NG_008166.1:g.18989_18990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-101_3379-100del MANE Select	ENSP00000370826.4:n.3379-101_3379-100del
ENST00000680789.1:c.3379-101_3379-100del	ENSP00000505181.1:n.3379-101_3379-100del
ENST00000312841.9:c.3214-101_3214-100del	ENSP00000326765.8:n.3214-101_3214-100del
ENST00000381418.8:c.3379-101_3379-100del	ENSP00000370826.4:n.3379-101_3379-100del
ENST00000522016.1:n.1572-101_1572-100del
NM_005144.4:c.3379-101_3379-100del	NP_005135.2:n.3379-101_3379-100del
NM_018411.4:c.3214-101_3214-100del	NP_060881.2:n.3214-101_3214-100del
XM_005273569.1:c.3382-101_3382-100del	XP_005273626.1:n.3382-101_3382-100del
XM_006716367.1:c.3217-101_3217-100del	XP_006716430.1:n.3217-101_3217-100del
XM_005273569.2:c.3382-101_3382-100del	XP_005273626.1:n.3382-101_3382-100del
XM_006716367.2:c.3217-101_3217-100del	XP_006716430.1:n.3217-101_3217-100del
NM_005144.5:c.3379-101_3379-100del MANE Select	NP_005135.2:n.3379-101_3379-100del