Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.125823113_125823165del , CM000672.2:g.125823113_125823165del	GRCh38
NC_000010.10:g.127511682_127511734del , CM000672.1:g.127511682_127511734del	GRCh37
NC_000010.9:g.127501672_127501724del	NCBI36
NG_011557.1:g.5107_5159del
NG_029095.1:g.4579_4631del
NG_011557.2:g.5107_5159del

Transcript Alleles

HGVS	Amino-acid change
ENST00000713579.1:c.-160_-108del	ENSP00000518871.1:n.-160_-108del
ENST00000368797.10:c.-160_-108del MANE Select	ENSP00000357787.4:n.-160_-108del
ENST00000648119.1:c.-160_-108del	ENSP00000497494.1:n.-160_-108del
ENST00000648427.1:c.-160_-108del	ENSP00000497909.1:n.-160_-108del
ENST00000649536.1:c.-160_-108del	ENSP00000497817.1:n.-160_-108del
ENST00000368778.7:c.-160_-108del	ENSP00000357767.3:n.-160_-108del
ENST00000368797.8:c.-160_-108del	ENSP00000357787.4:n.-160_-108del
ENST00000420761.5:c.-160_-108del	ENSP00000414833.1:n.-160_-108del
NM_000375.2:c.-160_-108del	NP_000366.1:n.-160_-108del
XM_006717960.2:c.-27+45_-27+97del	XP_006718023.1:n.-27+45_-27+97del
NM_000375.3:c.-160_-108del MANE Select	NP_000366.1:n.-160_-108del
NM_001324036.1:c.-160_-108del	NP_001310965.1:n.-160_-108del
NM_001324037.1:c.-160_-108del	NP_001310966.1:n.-160_-108del
NM_001324038.1:c.-160_-108del	NP_001310967.1:n.-160_-108del
NM_001324039.1:c.-160_-108del	NP_001310968.1:n.-160_-108del
NR_136675.1:n.107_159del
NR_136676.1:n.107_159del
NR_136677.1:n.107_159del
NR_136678.1:n.107_159del
XM_017016611.2:c.-27+45_-27+97del	XP_016872100.2:n.-27+45_-27+97del
XM_024448154.1:c.-27+45_-27+97del	XP_024303922.1:n.-27+45_-27+97del
XM_024448155.1:c.-160_-108del	XP_024303923.1:n.-160_-108del
XR_002957010.1:n.38+45_38+97del
NM_001324036.2:c.-160_-108del	NP_001310965.1:n.-160_-108del
NM_001324037.2:c.-160_-108del	NP_001310966.1:n.-160_-108del
NM_001324038.2:c.-160_-108del	NP_001310967.1:n.-160_-108del
NR_136675.2:n.97_149del
NR_136676.2:n.97_149del
NR_136678.2:n.97_149del
NM_001324039.2:c.-160_-108del	NP_001310968.1:n.-160_-108del
NR_136677.2:n.97_149del