Canonical Allele Identifier: CA2585699137

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793713-G-GGGAGGAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793713_44793714insGGAGGAGAA , CM000681.2:g.44793713_44793714insGGAGGAGAA	GRCh38
NC_000019.9:g.45296970_45296971insGGAGGAGAA , CM000681.1:g.45296970_45296971insGGAGGAGAA	GRCh37
NC_000019.8:g.49988810_49988811insGGAGGAGAA	NCBI36
NG_054718.1:g.20859_20860insGGAGGAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+93_1284+94insGGAGGAGAA MANE Select	ENSP00000494162.1:n.1284+93_1284+94insGGAGGAGAA
ENST00000270279.7:c.1284+93_1284+94insGGAGGAGAA	ENSP00000270279.3:n.1284+93_1284+94insGGAGGAGAA
ENST00000341505.4:c.1146+93_1146+94insGGAGGAGAA	ENSP00000340250.4:n.1146+93_1146+94insGGAGGAGAA
NM_001130852.1:c.1146+93_1146+94insGGAGGAGAA	NP_001124324.1:n.1146+93_1146+94insGGAGGAGAA
NM_012116.3:c.1284+93_1284+94insGGAGGAGAA	NP_036248.3:n.1284+93_1284+94insGGAGGAGAA
XM_005258696.2:c.1284+93_1284+94insGGAGGAGAA	XP_005258753.1:n.1284+93_1284+94insGGAGGAGAA
XM_011526688.1:c.1284+93_1284+94insGGAGGAGAA	XP_011524990.1:n.1284+93_1284+94insGGAGGAGAA
XM_011526689.1:c.1146+93_1146+94insGGAGGAGAA	XP_011524991.1:n.1146+93_1146+94insGGAGGAGAA
XR_935783.1:n.1231+93_1231+94insGGAGGAGAA
NM_012116.4:c.1284+93_1284+94insGGAGGAGAA MANE Select	NP_036248.3:n.1284+93_1284+94insGGAGGAGAA
XM_005258696.3:c.1284+93_1284+94insGGAGGAGAA	XP_005258753.1:n.1284+93_1284+94insGGAGGAGAA
XM_011526688.2:c.1284+93_1284+94insGGAGGAGAA	XP_011524990.1:n.1284+93_1284+94insGGAGGAGAA
XM_011526689.2:c.1146+93_1146+94insGGAGGAGAA	XP_011524991.1:n.1146+93_1146+94insGGAGGAGAA
XR_935783.2:n.1236+93_1236+94insGGAGGAGAA