Canonical Allele Identifier: CA1111736018

Gene: HR

Linked Data

• gnomAD v3: 8-22116529-A-ACCCCCC
• gnomAD v4: 8-22116529-A-ACCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116533_22116534insCCCCCC , CM000670.2:g.22116533_22116534insCCCCCC	GRCh38
NC_000008.10:g.21974046_21974047insCCCCCC , CM000670.1:g.21974046_21974047insCCCCCC	GRCh37
NC_000008.9:g.22029991_22029992insCCCCCC	NCBI36
NG_008166.1:g.18988_18989insGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-102_3379-101insGGGGGG MANE Select	ENSP00000370826.4:n.3379-102_3379-101insGGGGGG
ENST00000680789.1:c.3379-102_3379-101insGGGGGG	ENSP00000505181.1:n.3379-102_3379-101insGGGGGG
ENST00000312841.9:c.3214-102_3214-101insGGGGGG	ENSP00000326765.8:n.3214-102_3214-101insGGGGGG
ENST00000381418.8:c.3379-102_3379-101insGGGGGG	ENSP00000370826.4:n.3379-102_3379-101insGGGGGG
ENST00000522016.1:n.1572-102_1572-101insGGGGGG
NM_005144.4:c.3379-102_3379-101insGGGGGG	NP_005135.2:n.3379-102_3379-101insGGGGGG
NM_018411.4:c.3214-102_3214-101insGGGGGG	NP_060881.2:n.3214-102_3214-101insGGGGGG
XM_005273569.1:c.3382-102_3382-101insGGGGGG	XP_005273626.1:n.3382-102_3382-101insGGGGGG
XM_006716367.1:c.3217-102_3217-101insGGGGGG	XP_006716430.1:n.3217-102_3217-101insGGGGGG
XM_005273569.2:c.3382-102_3382-101insGGGGGG	XP_005273626.1:n.3382-102_3382-101insGGGGGG
XM_006716367.2:c.3217-102_3217-101insGGGGGG	XP_006716430.1:n.3217-102_3217-101insGGGGGG
NM_005144.5:c.3379-102_3379-101insGGGGGG MANE Select	NP_005135.2:n.3379-102_3379-101insGGGGGG