Canonical Allele Identifier: CA2338111203

Gene: CBLC

Linked Data

• dbSNP Id: rs1968114873
• gnomAD v4: 19-44793721-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793721_44793722insT , CM000681.2:g.44793721_44793722insT	GRCh38
NC_000019.9:g.45296978_45296979insT , CM000681.1:g.45296978_45296979insT	GRCh37
NC_000019.8:g.49988818_49988819insT	NCBI36
NG_054718.1:g.20867_20868insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+101_1284+102insT MANE Select	ENSP00000494162.1:n.1284+101_1284+102insT
ENST00000270279.7:c.1284+101_1284+102insT	ENSP00000270279.3:n.1284+101_1284+102insT
ENST00000341505.4:c.1146+101_1146+102insT	ENSP00000340250.4:n.1146+101_1146+102insT
NM_001130852.1:c.1146+101_1146+102insT	NP_001124324.1:n.1146+101_1146+102insT
NM_012116.3:c.1284+101_1284+102insT	NP_036248.3:n.1284+101_1284+102insT
XM_005258696.2:c.1284+101_1284+102insT	XP_005258753.1:n.1284+101_1284+102insT
XM_011526688.1:c.1284+101_1284+102insT	XP_011524990.1:n.1284+101_1284+102insT
XM_011526689.1:c.1146+101_1146+102insT	XP_011524991.1:n.1146+101_1146+102insT
XR_935783.1:n.1231+101_1231+102insT
NM_012116.4:c.1284+101_1284+102insT MANE Select	NP_036248.3:n.1284+101_1284+102insT
XM_005258696.3:c.1284+101_1284+102insT	XP_005258753.1:n.1284+101_1284+102insT
XM_011526688.2:c.1284+101_1284+102insT	XP_011524990.1:n.1284+101_1284+102insT
XM_011526689.2:c.1146+101_1146+102insT	XP_011524991.1:n.1146+101_1146+102insT
XR_935783.2:n.1236+101_1236+102insT