Canonical Allele Identifier: CA1770254105

Gene: HR

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22116156_22116157delinsTA , CM000670.2:g.22116156_22116157delinsTA	GRCh38
NC_000008.10:g.21973669_21973670delinsTA , CM000670.1:g.21973669_21973670delinsTA	GRCh37
NC_000008.9:g.22029614_22029615delinsTA	NCBI36
NG_008166.1:g.19361_19362delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381418.9:c.3507+143_3507+144delinsTA MANE Select	ENSP00000370826.4:n.3507+143_3507+144delinsTA
ENST00000680789.1:c.3507+143_3507+144delinsTA	ENSP00000505181.1:n.3507+143_3507+144delinsTA
ENST00000312841.9:c.3342+143_3342+144delinsTA	ENSP00000326765.8:n.3342+143_3342+144delinsTA
ENST00000381418.8:c.3507+143_3507+144delinsTA	ENSP00000370826.4:n.3507+143_3507+144delinsTA
ENST00000522016.1:n.1700+143_1700+144delinsTA
NM_005144.4:c.3507+143_3507+144delinsTA	NP_005135.2:n.3507+143_3507+144delinsTA
NM_018411.4:c.3342+143_3342+144delinsTA	NP_060881.2:n.3342+143_3342+144delinsTA
XM_005273569.1:c.3510+143_3510+144delinsTA	XP_005273626.1:n.3510+143_3510+144delinsTA
XM_006716367.1:c.3345+143_3345+144delinsTA	XP_006716430.1:n.3345+143_3345+144delinsTA
XM_005273569.2:c.3510+143_3510+144delinsTA	XP_005273626.1:n.3510+143_3510+144delinsTA
XM_006716367.2:c.3345+143_3345+144delinsTA	XP_006716430.1:n.3345+143_3345+144delinsTA
NM_005144.5:c.3507+143_3507+144delinsTA MANE Select	NP_005135.2:n.3507+143_3507+144delinsTA