Canonical Allele Identifier: CA2512816515

Gene: HR

Linked Data

• gnomAD v4: 8-22116518-A-ACCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116518_22116519insCCCCCCCCCCCCCC , CM000670.2:g.22116518_22116519insCCCCCCCCCCCCCC	GRCh38
NC_000008.10:g.21974031_21974032insCCCCCCCCCCCCCC , CM000670.1:g.21974031_21974032insCCCCCCCCCCCCCC	GRCh37
NC_000008.9:g.22029976_22029977insCCCCCCCCCCCCCC	NCBI36
NG_008166.1:g.18999_19000insGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-91_3379-90insGGGGGGGGGGGGGG MANE Select	ENSP00000370826.4:n.3379-91_3379-90insGGGGGGGGGGGGGG
ENST00000680789.1:c.3379-91_3379-90insGGGGGGGGGGGGGG	ENSP00000505181.1:n.3379-91_3379-90insGGGGGGGGGGGGGG
ENST00000312841.9:c.3214-91_3214-90insGGGGGGGGGGGGGG	ENSP00000326765.8:n.3214-91_3214-90insGGGGGGGGGGGGGG
ENST00000381418.8:c.3379-91_3379-90insGGGGGGGGGGGGGG	ENSP00000370826.4:n.3379-91_3379-90insGGGGGGGGGGGGGG
ENST00000522016.1:n.1572-91_1572-90insGGGGGGGGGGGGGG
NM_005144.4:c.3379-91_3379-90insGGGGGGGGGGGGGG	NP_005135.2:n.3379-91_3379-90insGGGGGGGGGGGGGG
NM_018411.4:c.3214-91_3214-90insGGGGGGGGGGGGGG	NP_060881.2:n.3214-91_3214-90insGGGGGGGGGGGGGG
XM_005273569.1:c.3382-91_3382-90insGGGGGGGGGGGGGG	XP_005273626.1:n.3382-91_3382-90insGGGGGGGGGGGGGG
XM_006716367.1:c.3217-91_3217-90insGGGGGGGGGGGGGG	XP_006716430.1:n.3217-91_3217-90insGGGGGGGGGGGGGG
XM_005273569.2:c.3382-91_3382-90insGGGGGGGGGGGGGG	XP_005273626.1:n.3382-91_3382-90insGGGGGGGGGGGGGG
XM_006716367.2:c.3217-91_3217-90insGGGGGGGGGGGGGG	XP_006716430.1:n.3217-91_3217-90insGGGGGGGGGGGGGG
NM_005144.5:c.3379-91_3379-90insGGGGGGGGGGGGGG MANE Select	NP_005135.2:n.3379-91_3379-90insGGGGGGGGGGGGGG