Canonical Allele Identifier: CA2338111097

Gene: CBLC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793530_44793532delinsCGT , CM000681.2:g.44793530_44793532delinsCGT	GRCh38
NC_000019.9:g.45296787_45296789delinsCGT , CM000681.1:g.45296787_45296789delinsCGT	GRCh37
NC_000019.8:g.49988627_49988629delinsCGT	NCBI36
NG_054718.1:g.20676_20678delinsCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1194_1196delinsCGT MANE Select	ENSP00000494162.1:p.Ala398=
ENST00000270279.7:c.1194_1196delinsCGT	ENSP00000270279.3:p.Ala398=
ENST00000341505.4:c.1056_1058delinsCGT	ENSP00000340250.4:p.Ala352=
NM_001130852.1:c.1056_1058delinsCGT	NP_001124324.1:p.Ala352=
NM_012116.3:c.1194_1196delinsCGT	NP_036248.3:p.Ala398=
XM_005258696.2:c.1194_1196delinsCGT	XP_005258753.1:p.Ala398=
XM_011526688.1:c.1194_1196delinsCGT	XP_011524990.1:p.Ala398=
XM_011526689.1:c.1056_1058delinsCGT	XP_011524991.1:p.Ala352=
XR_935783.1:n.1141_1143delinsCGT
NM_012116.4:c.1194_1196delinsCGT MANE Select	NP_036248.3:p.Ala398=
XM_005258696.3:c.1194_1196delinsCGT	XP_005258753.1:p.Ala398=
XM_011526688.2:c.1194_1196delinsCGT	XP_011524990.1:p.Ala398=
XM_011526689.2:c.1056_1058delinsCGT	XP_011524991.1:p.Ala352=
XR_935783.2:n.1146_1148delinsCGT