Canonical Allele Identifier: CA2338111126

Gene: CBLC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793589_44793590delinsAC , CM000681.2:g.44793589_44793590delinsAC	GRCh38
NC_000019.9:g.45296846_45296847delinsAC , CM000681.1:g.45296846_45296847delinsAC	GRCh37
NC_000019.8:g.49988686_49988687delinsAC	NCBI36
NG_054718.1:g.20735_20736delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1253_1254delinsAC MANE Select	ENSP00000494162.1:p.Asp418=
ENST00000270279.7:c.1253_1254delinsAC	ENSP00000270279.3:p.Asp418=
ENST00000341505.4:c.1115_1116delinsAC	ENSP00000340250.4:p.Asp372=
NM_001130852.1:c.1115_1116delinsAC	NP_001124324.1:p.Asp372=
NM_012116.3:c.1253_1254delinsAC	NP_036248.3:p.Asp418=
XM_005258696.2:c.1253_1254delinsAC	XP_005258753.1:p.Asp418=
XM_011526688.1:c.1253_1254delinsAC	XP_011524990.1:p.Asp418=
XM_011526689.1:c.1115_1116delinsAC	XP_011524991.1:p.Asp372=
XR_935783.1:n.1200_1201delinsAC
NM_012116.4:c.1253_1254delinsAC MANE Select	NP_036248.3:p.Asp418=
XM_005258696.3:c.1253_1254delinsAC	XP_005258753.1:p.Asp418=
XM_011526688.2:c.1253_1254delinsAC	XP_011524990.1:p.Asp418=
XM_011526689.2:c.1115_1116delinsAC	XP_011524991.1:p.Asp372=
XR_935783.2:n.1205_1206delinsAC