Canonical Allele Identifier: CA2686436807

Gene: HR

Linked Data

• gnomAD v4: 8-22123708-TGGCTGCAGCGGGGACATCGCCAGTGGGTGTTGAAGAGTCCATGGTGGCAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22123718_22123768del , CM000670.2:g.22123718_22123768del	GRCh38
NC_000008.10:g.21981231_21981281del , CM000670.1:g.21981231_21981281del	GRCh37
NC_000008.9:g.22037176_22037226del	NCBI36
NG_008166.1:g.11759_11809del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381418.9:c.1805_1855del MANE Select	ENSP00000370826.4:p.Arg602_Ser618del
ENST00000680789.1:c.1805_1855del	ENSP00000505181.1:p.Arg602_Ser618del
ENST00000312841.9:c.1805_1855del	ENSP00000326765.8:p.Arg602_Ser618del
ENST00000381418.8:c.1805_1855del	ENSP00000370826.4:p.Arg602_Ser618del
NM_005144.4:c.1805_1855del	NP_005135.2:p.Arg602_Ser618del
NM_018411.4:c.1805_1855del	NP_060881.2:p.Arg602_Ser618del
XM_005273569.1:c.1808_1858del	XP_005273626.1:p.Arg603_Ser619del
XM_006716367.1:c.1808_1858del	XP_006716430.1:p.Arg603_Ser619del
XM_005273569.2:c.1808_1858del	XP_005273626.1:p.Arg603_Ser619del
XM_006716367.2:c.1808_1858del	XP_006716430.1:p.Arg603_Ser619del
NM_005144.5:c.1805_1855del MANE Select	NP_005135.2:p.Arg602_Ser618del