Canonical Allele Identifier: CA1111735995

Gene: HR

Linked Data

• gnomAD v3: 8-22116522-A-ACCCCCCCCCCCCCCCCCCC
• gnomAD v4: 8-22116522-A-ACCCCCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116527_22116528insCCCCCCCCCCCCCCCCCCC , CM000670.2:g.22116527_22116528insCCCCCCCCCCCCCCCCCCC	GRCh38
NC_000008.10:g.21974040_21974041insCCCCCCCCCCCCCCCCCCC , CM000670.1:g.21974040_21974041insCCCCCCCCCCCCCCCCCCC	GRCh37
NC_000008.9:g.22029985_22029986insCCCCCCCCCCCCCCCCCCC	NCBI36
NG_008166.1:g.18995_18996insGGGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-95_3379-94insGGGGGGGGGGGGGGGGGGG MANE Select	ENSP00000370826.4:n.3379-95_3379-94insGGGGGGGGGGGGGGGGGGG
ENST00000680789.1:c.3379-95_3379-94insGGGGGGGGGGGGGGGGGGG	ENSP00000505181.1:n.3379-95_3379-94insGGGGGGGGGGGGGGGGGGG
ENST00000312841.9:c.3214-95_3214-94insGGGGGGGGGGGGGGGGGGG	ENSP00000326765.8:n.3214-95_3214-94insGGGGGGGGGGGGGGGGGGG
ENST00000381418.8:c.3379-95_3379-94insGGGGGGGGGGGGGGGGGGG	ENSP00000370826.4:n.3379-95_3379-94insGGGGGGGGGGGGGGGGGGG
ENST00000522016.1:n.1572-95_1572-94insGGGGGGGGGGGGGGGGGGG
NM_005144.4:c.3379-95_3379-94insGGGGGGGGGGGGGGGGGGG	NP_005135.2:n.3379-95_3379-94insGGGGGGGGGGGGGGGGGGG
NM_018411.4:c.3214-95_3214-94insGGGGGGGGGGGGGGGGGGG	NP_060881.2:n.3214-95_3214-94insGGGGGGGGGGGGGGGGGGG
XM_005273569.1:c.3382-95_3382-94insGGGGGGGGGGGGGGGGGGG	XP_005273626.1:n.3382-95_3382-94insGGGGGGGGGGGGGGGGGGG
XM_006716367.1:c.3217-95_3217-94insGGGGGGGGGGGGGGGGGGG	XP_006716430.1:n.3217-95_3217-94insGGGGGGGGGGGGGGGGGGG
XM_005273569.2:c.3382-95_3382-94insGGGGGGGGGGGGGGGGGGG	XP_005273626.1:n.3382-95_3382-94insGGGGGGGGGGGGGGGGGGG
XM_006716367.2:c.3217-95_3217-94insGGGGGGGGGGGGGGGGGGG	XP_006716430.1:n.3217-95_3217-94insGGGGGGGGGGGGGGGGGGG
NM_005144.5:c.3379-95_3379-94insGGGGGGGGGGGGGGGGGGG MANE Select	NP_005135.2:n.3379-95_3379-94insGGGGGGGGGGGGGGGGGGG