Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149186976_149186978del , CM000665.2:g.149186976_149186978del	GRCh38
NC_000003.11:g.148904763_148904765del , CM000665.1:g.148904763_148904765del	GRCh37
NC_000003.10:g.150387453_150387455del	NCBI36
NG_011800.1:g.40068_40070del
NG_011800.2:g.40068_40070del
NG_011800.3:g.40068_40070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.1865-246_1865-244del MANE Select	ENSP00000264613.6:n.1865-246_1865-244del
ENST00000264613.10:c.1865-246_1865-244del	ENSP00000264613.6:n.1865-246_1865-244del
ENST00000462336.5:n.239-246_239-244del
ENST00000481169.5:c.1864+1074_1864+1076del	ENSP00000418773.1:n.1864+1074_1864+1076del
ENST00000489736.5:n.1090-246_1090-244del
ENST00000490639.5:n.1897-246_1897-244del
ENST00000494544.1:c.1214-246_1214-244del	ENSP00000420545.1:n.1214-246_1214-244del
ENST00000497902.5:n.46-246_46-244del
NM_000096.3:c.1865-246_1865-244del	NP_000087.1:n.1865-246_1865-244del
NR_046371.1:n.2117+1074_2117+1076del
XM_006713499.2:c.1865-246_1865-244del	XP_006713562.1:n.1865-246_1865-244del
XM_006713500.2:c.1865-246_1865-244del	XP_006713563.1:n.1865-246_1865-244del
XM_006713501.2:c.1865-246_1865-244del	XP_006713564.1:n.1865-246_1865-244del
XM_006713502.2:c.1865-246_1865-244del	XP_006713565.1:n.1865-246_1865-244del
XM_011512435.1:c.1865-246_1865-244del	XP_011510737.1:n.1865-246_1865-244del
XR_427361.2:n.2123-246_2123-244del
XM_006713499.3:c.1865-246_1865-244del	XP_006713562.1:n.1865-246_1865-244del
XM_006713500.4:c.1865-246_1865-244del	XP_006713563.1:n.1865-246_1865-244del
XM_006713501.3:c.1865-246_1865-244del	XP_006713564.1:n.1865-246_1865-244del
XM_011512435.2:c.1865-246_1865-244del	XP_011510737.1:n.1865-246_1865-244del
XM_017005734.2:c.1865-246_1865-244del	XP_016861223.1:n.1865-246_1865-244del
XM_017005735.2:c.1865-246_1865-244del	XP_016861224.1:n.1865-246_1865-244del
XR_427361.3:n.2081-246_2081-244del
NM_000096.4:c.1865-246_1865-244del MANE Select	NP_000087.2:n.1865-246_1865-244del
NR_046371.2:n.1901+1074_1901+1076del