Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793312G= , CM000684.2:g.23793312G=	GRCh38
NC_000022.10:g.24135499G= , CM000684.1:g.24135499G=	GRCh37
NC_000022.9:g.22465499G=	NCBI36
NG_009303.1:g.11350G= , LRG_520:g.11350G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.233-247G=	ENSP00000263121.8:n.233-247G=
ENST00000344921.11:c.206-247G=	ENSP00000340883.6:n.206-247G=
ENST00000407082.4:c.206-247G=	ENSP00000385226.4:n.206-247G=
ENST00000407422.8:c.206-247G=	ENSP00000383984.3:n.206-247G=
ENST00000417137.6:c.233-247G=	ENSP00000388489.2:n.233-247G=
ENST00000491967.2:n.396-247G=
ENST00000643421.1:n.201-247G=
ENST00000644036.2:c.233-247G= MANE Select	ENSP00000494049.2:n.233-247G=
ENST00000644462.1:c.68-247G=	ENSP00000494283.1:n.68-247G=
ENST00000644619.1:c.233-247G=	ENSP00000494695.1:n.233-247G=
ENST00000646421.1:n.1842G=
ENST00000646723.1:n.221-247G=
ENST00000646911.1:n.145-247G=
ENST00000647057.1:c.93+6050G=	ENSP00000494757.1:n.93+6050G=
ENST00000263121.11:c.233-247G=	ENSP00000263121.7:n.233-247G=
ENST00000344921.10:c.206-247G=	ENSP00000340883.6:n.206-247G=
ENST00000407082.3:c.233-247G=	ENSP00000385226.3:n.233-247G=
ENST00000407422.7:c.206-247G=	ENSP00000383984.3:n.206-247G=
ENST00000417137.5:c.233-247G=	ENSP00000388489.1:n.233-247G=
ENST00000634926.1:c.85-247G=
ENST00000635578.1:c.58-247G=
NM_001007468.1:c.206-247G=	NP_001007469.1:n.206-247G=
NM_003073.3:c.233-247G= , LRG_520t1:c.233-247G=	NP_003064.2:n.233-247G=
XM_011530345.1:c.233-247G=	XP_011528647.1:n.233-247G=
XM_011530346.1:c.206-247G=	XP_011528648.1:n.206-247G=
NM_001007468.2:c.206-247G=	NP_001007469.1:n.206-247G=
NM_001317946.1:c.206-247G=	NP_001304875.1:n.206-247G=
NM_001362877.1:c.233-247G=	NP_001349806.1:n.233-247G=
NM_003073.4:c.233-247G=	NP_003064.2:n.233-247G=
NM_001007468.3:c.206-247G=	NP_001007469.1:n.206-247G=
NM_001317946.2:c.206-247G=	NP_001304875.1:n.206-247G=
NM_001362877.2:c.233-247G=	NP_001349806.1:n.233-247G=
NM_003073.5:c.233-247G= MANE Select	NP_003064.2:n.233-247G=