Canonical Allele Identifier: CA2814530679

Gene: CBLC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793677_44793678insGT , CM000681.2:g.44793677_44793678insGT	GRCh38
NC_000019.9:g.45296934_45296935insGT , CM000681.1:g.45296934_45296935insGT	GRCh37
NC_000019.8:g.49988774_49988775insGT	NCBI36
NG_054718.1:g.20823_20824insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+57_1284+58insGT MANE Select	ENSP00000494162.1:n.1284+57_1284+58insGT
ENST00000270279.7:c.1284+57_1284+58insGT	ENSP00000270279.3:n.1284+57_1284+58insGT
ENST00000341505.4:c.1146+57_1146+58insGT	ENSP00000340250.4:n.1146+57_1146+58insGT
NM_001130852.1:c.1146+57_1146+58insGT	NP_001124324.1:n.1146+57_1146+58insGT
NM_012116.3:c.1284+57_1284+58insGT	NP_036248.3:n.1284+57_1284+58insGT
XM_005258696.2:c.1284+57_1284+58insGT	XP_005258753.1:n.1284+57_1284+58insGT
XM_011526688.1:c.1284+57_1284+58insGT	XP_011524990.1:n.1284+57_1284+58insGT
XM_011526689.1:c.1146+57_1146+58insGT	XP_011524991.1:n.1146+57_1146+58insGT
XR_935783.1:n.1231+57_1231+58insGT
NM_012116.4:c.1284+57_1284+58insGT MANE Select	NP_036248.3:n.1284+57_1284+58insGT
XM_005258696.3:c.1284+57_1284+58insGT	XP_005258753.1:n.1284+57_1284+58insGT
XM_011526688.2:c.1284+57_1284+58insGT	XP_011524990.1:n.1284+57_1284+58insGT
XM_011526689.2:c.1146+57_1146+58insGT	XP_011524991.1:n.1146+57_1146+58insGT
XR_935783.2:n.1236+57_1236+58insGT