Canonical Allele Identifier: CA1111735975

Gene: HR

Linked Data

• dbSNP Id: rs1826591925
• gnomAD v3: 8-22116519-A-ACCCC
• gnomAD v4: 8-22116519-A-ACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116521_22116522insCCCC , CM000670.2:g.22116521_22116522insCCCC	GRCh38
NC_000008.10:g.21974034_21974035insCCCC , CM000670.1:g.21974034_21974035insCCCC	GRCh37
NC_000008.9:g.22029979_22029980insCCCC	NCBI36
NG_008166.1:g.18998_18999insGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3379-92_3379-91insGGGG MANE Select	ENSP00000370826.4:n.3379-92_3379-91insGGGG
ENST00000680789.1:c.3379-92_3379-91insGGGG	ENSP00000505181.1:n.3379-92_3379-91insGGGG
ENST00000312841.9:c.3214-92_3214-91insGGGG	ENSP00000326765.8:n.3214-92_3214-91insGGGG
ENST00000381418.8:c.3379-92_3379-91insGGGG	ENSP00000370826.4:n.3379-92_3379-91insGGGG
ENST00000522016.1:n.1572-92_1572-91insGGGG
NM_005144.4:c.3379-92_3379-91insGGGG	NP_005135.2:n.3379-92_3379-91insGGGG
NM_018411.4:c.3214-92_3214-91insGGGG	NP_060881.2:n.3214-92_3214-91insGGGG
XM_005273569.1:c.3382-92_3382-91insGGGG	XP_005273626.1:n.3382-92_3382-91insGGGG
XM_006716367.1:c.3217-92_3217-91insGGGG	XP_006716430.1:n.3217-92_3217-91insGGGG
XM_005273569.2:c.3382-92_3382-91insGGGG	XP_005273626.1:n.3382-92_3382-91insGGGG
XM_006716367.2:c.3217-92_3217-91insGGGG	XP_006716430.1:n.3217-92_3217-91insGGGG
NM_005144.5:c.3379-92_3379-91insGGGG MANE Select	NP_005135.2:n.3379-92_3379-91insGGGG