Canonical Allele Identifier: CA2686436745

Gene: HR

Linked Data

• gnomAD v4: 8-22123620-C-CTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123620_22123621insTGGG , CM000670.2:g.22123620_22123621insTGGG	GRCh38
NC_000008.10:g.21981133_21981134insTGGG , CM000670.1:g.21981133_21981134insTGGG	GRCh37
NC_000008.9:g.22037078_22037079insTGGG	NCBI36
NG_008166.1:g.11897_11898insCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1915+28_1915+29insCCCA MANE Select	ENSP00000370826.4:n.1915+28_1915+29insCCCA
ENST00000680789.1:c.1915+28_1915+29insCCCA	ENSP00000505181.1:n.1915+28_1915+29insCCCA
ENST00000312841.9:c.1915+28_1915+29insCCCA	ENSP00000326765.8:n.1915+28_1915+29insCCCA
ENST00000381418.8:c.1915+28_1915+29insCCCA	ENSP00000370826.4:n.1915+28_1915+29insCCCA
NM_005144.4:c.1915+28_1915+29insCCCA	NP_005135.2:n.1915+28_1915+29insCCCA
NM_018411.4:c.1915+28_1915+29insCCCA	NP_060881.2:n.1915+28_1915+29insCCCA
XM_005273569.1:c.1918+28_1918+29insCCCA	XP_005273626.1:n.1918+28_1918+29insCCCA
XM_006716367.1:c.1918+28_1918+29insCCCA	XP_006716430.1:n.1918+28_1918+29insCCCA
XM_005273569.2:c.1918+28_1918+29insCCCA	XP_005273626.1:n.1918+28_1918+29insCCCA
XM_006716367.2:c.1918+28_1918+29insCCCA	XP_006716430.1:n.1918+28_1918+29insCCCA
NM_005144.5:c.1915+28_1915+29insCCCA MANE Select	NP_005135.2:n.1915+28_1915+29insCCCA