Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149186136_149186138del , CM000665.2:g.149186136_149186138del	GRCh38
NC_000003.11:g.148903923_148903925del , CM000665.1:g.148903923_148903925del	GRCh37
NC_000003.10:g.150386613_150386615del	NCBI36
NG_011800.1:g.40908_40910del
NG_011800.2:g.40908_40910del
NG_011800.3:g.40908_40910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.2077+382_2077+384del MANE Select	ENSP00000264613.6:n.2077+382_2077+384del
ENST00000264613.10:c.2077+382_2077+384del	ENSP00000264613.6:n.2077+382_2077+384del
ENST00000462336.5:n.451+382_451+384del
ENST00000481169.5:c.1865-692_1865-690del	ENSP00000418773.1:n.1865-692_1865-690del
ENST00000489736.5:n.1684_1686del
ENST00000490639.5:n.2109+382_2109+384del
ENST00000494544.1:c.1426+382_1426+384del	ENSP00000420545.1:n.1426+382_1426+384del
ENST00000497902.5:n.258+382_258+384del
NM_000096.3:c.2077+382_2077+384del	NP_000087.1:n.2077+382_2077+384del
NR_046371.1:n.2118-692_2118-690del
XM_006713499.2:c.2077+382_2077+384del	XP_006713562.1:n.2077+382_2077+384del
XM_006713500.2:c.2077+382_2077+384del	XP_006713563.1:n.2077+382_2077+384del
XM_006713501.2:c.2077+382_2077+384del	XP_006713564.1:n.2077+382_2077+384del
XM_006713502.2:c.2077+382_2077+384del	XP_006713565.1:n.2077+382_2077+384del
XM_011512435.1:c.2077+382_2077+384del	XP_011510737.1:n.2077+382_2077+384del
XR_427361.2:n.2335+382_2335+384del
XM_006713499.3:c.2077+382_2077+384del	XP_006713562.1:n.2077+382_2077+384del
XM_006713500.4:c.2077+382_2077+384del	XP_006713563.1:n.2077+382_2077+384del
XM_006713501.3:c.2077+382_2077+384del	XP_006713564.1:n.2077+382_2077+384del
XM_011512435.2:c.2077+382_2077+384del	XP_011510737.1:n.2077+382_2077+384del
XM_017005734.2:c.2077+382_2077+384del	XP_016861223.1:n.2077+382_2077+384del
XM_017005735.2:c.2077+382_2077+384del	XP_016861224.1:n.2077+382_2077+384del
XR_427361.3:n.2293+382_2293+384del
NM_000096.4:c.2077+382_2077+384del MANE Select	NP_000087.2:n.2077+382_2077+384del
NR_046371.2:n.1902-692_1902-690del