Canonical Allele Identifier: CA2538025217
Gene: HR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22116515_22116516insGCGGGGGGGGGG , CM000670.2:g.22116515_22116516insGCGGGGGGGGGG GRCh38
NC_000008.10:g.21974028_21974029insGCGGGGGGGGGG , CM000670.1:g.21974028_21974029insGCGGGGGGGGGG GRCh37
NC_000008.9:g.22029973_22029974insGCGGGGGGGGGG NCBI36
NG_008166.1:g.19003_19004insCCCCCCCCCGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000381418.9:c.3379-87_3379-86insCCCCCCCCCGCC MANE Select ENSP00000370826.4:n.3379-87_3379-86insCCCCCCCCCGCC
ENST00000680789.1:c.3379-87_3379-86insCCCCCCCCCGCC ENSP00000505181.1:n.3379-87_3379-86insCCCCCCCCCGCC
ENST00000312841.9:c.3214-87_3214-86insCCCCCCCCCGCC ENSP00000326765.8:n.3214-87_3214-86insCCCCCCCCCGCC
ENST00000381418.8:c.3379-87_3379-86insCCCCCCCCCGCC ENSP00000370826.4:n.3379-87_3379-86insCCCCCCCCCGCC
ENST00000522016.1:n.1572-87_1572-86insCCCCCCCCCGCC
NM_005144.4:c.3379-87_3379-86insCCCCCCCCCGCC NP_005135.2:n.3379-87_3379-86insCCCCCCCCCGCC
NM_018411.4:c.3214-87_3214-86insCCCCCCCCCGCC NP_060881.2:n.3214-87_3214-86insCCCCCCCCCGCC
XM_005273569.1:c.3382-87_3382-86insCCCCCCCCCGCC XP_005273626.1:n.3382-87_3382-86insCCCCCCCCCGCC
XM_006716367.1:c.3217-87_3217-86insCCCCCCCCCGCC XP_006716430.1:n.3217-87_3217-86insCCCCCCCCCGCC
XM_005273569.2:c.3382-87_3382-86insCCCCCCCCCGCC XP_005273626.1:n.3382-87_3382-86insCCCCCCCCCGCC
XM_006716367.2:c.3217-87_3217-86insCCCCCCCCCGCC XP_006716430.1:n.3217-87_3217-86insCCCCCCCCCGCC
NM_005144.5:c.3379-87_3379-86insCCCCCCCCCGCC MANE Select NP_005135.2:n.3379-87_3379-86insCCCCCCCCCGCC