Canonical Allele Identifier: CA2686436380

Gene: HR

Linked Data

• gnomAD v4: 8-22123617-T-TCACCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123618_22123619insACCCCCCCC , CM000670.2:g.22123618_22123619insACCCCCCCC	GRCh38
NC_000008.10:g.21981131_21981132insACCCCCCCC , CM000670.1:g.21981131_21981132insACCCCCCCC	GRCh37
NC_000008.9:g.22037076_22037077insACCCCCCCC	NCBI36
NG_008166.1:g.11900_11901insGGGGGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.1915+31_1915+32insGGGGGGGTG MANE Select	ENSP00000370826.4:n.1915+31_1915+32insGGGGGGGTG
ENST00000680789.1:c.1915+31_1915+32insGGGGGGGTG	ENSP00000505181.1:n.1915+31_1915+32insGGGGGGGTG
ENST00000312841.9:c.1915+31_1915+32insGGGGGGGTG	ENSP00000326765.8:n.1915+31_1915+32insGGGGGGGTG
ENST00000381418.8:c.1915+31_1915+32insGGGGGGGTG	ENSP00000370826.4:n.1915+31_1915+32insGGGGGGGTG
NM_005144.4:c.1915+31_1915+32insGGGGGGGTG	NP_005135.2:n.1915+31_1915+32insGGGGGGGTG
NM_018411.4:c.1915+31_1915+32insGGGGGGGTG	NP_060881.2:n.1915+31_1915+32insGGGGGGGTG
XM_005273569.1:c.1918+31_1918+32insGGGGGGGTG	XP_005273626.1:n.1918+31_1918+32insGGGGGGGTG
XM_006716367.1:c.1918+31_1918+32insGGGGGGGTG	XP_006716430.1:n.1918+31_1918+32insGGGGGGGTG
XM_005273569.2:c.1918+31_1918+32insGGGGGGGTG	XP_005273626.1:n.1918+31_1918+32insGGGGGGGTG
XM_006716367.2:c.1918+31_1918+32insGGGGGGGTG	XP_006716430.1:n.1918+31_1918+32insGGGGGGGTG
NM_005144.5:c.1915+31_1915+32insGGGGGGGTG MANE Select	NP_005135.2:n.1915+31_1915+32insGGGGGGGTG