Canonical Allele Identifier: CA580950581

Gene: HR

Linked Data

• gnomAD v2: 8-21981149-G-GCCCCCCCCCCCCCCC
• gnomAD v3: 8-22123636-G-GCCCCCCCCCCCCCCC
• gnomAD v4: 8-22123636-G-GCCCCCCCCCCCCCCC
• MyVariant Identifiers: chr8:g.21981149_21981150insCCCCCCCCCCCCCCC (hg19) ; chr8:g.22123636_22123637insCCCCCCCCCCCCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123640_22123641insCCCCCCCCCCCCCCC , CM000670.2:g.22123640_22123641insCCCCCCCCCCCCCCC	GRCh38
NC_000008.10:g.21981153_21981154insCCCCCCCCCCCCCCC , CM000670.1:g.21981153_21981154insCCCCCCCCCCCCCCC	GRCh37
NC_000008.9:g.22037098_22037099insCCCCCCCCCCCCCCC	NCBI36
NG_008166.1:g.11881_11882insGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000381418.9:c.1915+12_1915+13insGGGGGGGGGGGGGGG MANE Select	ENSP00000370826.4:n.1915+12_1915+13insGGGGGGGGGGGGGGG
ENST00000680789.1:c.1915+12_1915+13insGGGGGGGGGGGGGGG	ENSP00000505181.1:n.1915+12_1915+13insGGGGGGGGGGGGGGG
ENST00000312841.9:c.1915+12_1915+13insGGGGGGGGGGGGGGG	ENSP00000326765.8:n.1915+12_1915+13insGGGGGGGGGGGGGGG
ENST00000381418.8:c.1915+12_1915+13insGGGGGGGGGGGGGGG	ENSP00000370826.4:n.1915+12_1915+13insGGGGGGGGGGGGGGG
NM_005144.4:c.1915+12_1915+13insGGGGGGGGGGGGGGG	NP_005135.2:n.1915+12_1915+13insGGGGGGGGGGGGGGG
NM_018411.4:c.1915+12_1915+13insGGGGGGGGGGGGGGG	NP_060881.2:n.1915+12_1915+13insGGGGGGGGGGGGGGG
XM_005273569.1:c.1918+12_1918+13insGGGGGGGGGGGGGGG	XP_005273626.1:n.1918+12_1918+13insGGGGGGGGGGGGGGG
XM_006716367.1:c.1918+12_1918+13insGGGGGGGGGGGGGGG	XP_006716430.1:n.1918+12_1918+13insGGGGGGGGGGGGGGG
XM_005273569.2:c.1918+12_1918+13insGGGGGGGGGGGGGGG	XP_005273626.1:n.1918+12_1918+13insGGGGGGGGGGGGGGG
XM_006716367.2:c.1918+12_1918+13insGGGGGGGGGGGGGGG	XP_006716430.1:n.1918+12_1918+13insGGGGGGGGGGGGGGG
NM_005144.5:c.1915+12_1915+13insGGGGGGGGGGGGGGG MANE Select	NP_005135.2:n.1915+12_1915+13insGGGGGGGGGGGGGGG