Canonical Allele Identifier: CA2338111230

Gene: CBLC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793787_44793788delinsTG , CM000681.2:g.44793787_44793788delinsTG	GRCh38
NC_000019.9:g.45297044_45297045delinsTG , CM000681.1:g.45297044_45297045delinsTG	GRCh37
NC_000019.8:g.49988884_49988885delinsTG	NCBI36
NG_054718.1:g.20933_20934delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+167_1284+168delinsTG MANE Select	ENSP00000494162.1:n.1284+167_1284+168delinsTG
ENST00000270279.7:c.1284+167_1284+168delinsTG	ENSP00000270279.3:n.1284+167_1284+168delinsTG
ENST00000341505.4:c.1146+167_1146+168delinsTG	ENSP00000340250.4:n.1146+167_1146+168delinsTG
NM_001130852.1:c.1146+167_1146+168delinsTG	NP_001124324.1:n.1146+167_1146+168delinsTG
NM_012116.3:c.1284+167_1284+168delinsTG	NP_036248.3:n.1284+167_1284+168delinsTG
XM_005258696.2:c.1284+167_1284+168delinsTG	XP_005258753.1:n.1284+167_1284+168delinsTG
XM_011526688.1:c.1284+167_1284+168delinsTG	XP_011524990.1:n.1284+167_1284+168delinsTG
XM_011526689.1:c.1146+167_1146+168delinsTG	XP_011524991.1:n.1146+167_1146+168delinsTG
XR_935783.1:n.1231+167_1231+168delinsTG
NM_012116.4:c.1284+167_1284+168delinsTG MANE Select	NP_036248.3:n.1284+167_1284+168delinsTG
XM_005258696.3:c.1284+167_1284+168delinsTG	XP_005258753.1:n.1284+167_1284+168delinsTG
XM_011526688.2:c.1284+167_1284+168delinsTG	XP_011524990.1:n.1284+167_1284+168delinsTG
XM_011526689.2:c.1146+167_1146+168delinsTG	XP_011524991.1:n.1146+167_1146+168delinsTG
XR_935783.2:n.1236+167_1236+168delinsTG