Canonical Allele Identifier: CA996238632

Gene: CBLC

Linked Data

• gnomAD v3: 19-44793744-A-AGG
• gnomAD v4: 19-44793744-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793744_44793745insGG , CM000681.2:g.44793744_44793745insGG	GRCh38
NC_000019.9:g.45297001_45297002insGG , CM000681.1:g.45297001_45297002insGG	GRCh37
NC_000019.8:g.49988841_49988842insGG	NCBI36
NG_054718.1:g.20890_20891insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+124_1284+125insGG MANE Select	ENSP00000494162.1:n.1284+124_1284+125insGG
ENST00000270279.7:c.1284+124_1284+125insGG	ENSP00000270279.3:n.1284+124_1284+125insGG
ENST00000341505.4:c.1146+124_1146+125insGG	ENSP00000340250.4:n.1146+124_1146+125insGG
NM_001130852.1:c.1146+124_1146+125insGG	NP_001124324.1:n.1146+124_1146+125insGG
NM_012116.3:c.1284+124_1284+125insGG	NP_036248.3:n.1284+124_1284+125insGG
XM_005258696.2:c.1284+124_1284+125insGG	XP_005258753.1:n.1284+124_1284+125insGG
XM_011526688.1:c.1284+124_1284+125insGG	XP_011524990.1:n.1284+124_1284+125insGG
XM_011526689.1:c.1146+124_1146+125insGG	XP_011524991.1:n.1146+124_1146+125insGG
XR_935783.1:n.1231+124_1231+125insGG
NM_012116.4:c.1284+124_1284+125insGG MANE Select	NP_036248.3:n.1284+124_1284+125insGG
XM_005258696.3:c.1284+124_1284+125insGG	XP_005258753.1:n.1284+124_1284+125insGG
XM_011526688.2:c.1284+124_1284+125insGG	XP_011524990.1:n.1284+124_1284+125insGG
XM_011526689.2:c.1146+124_1146+125insGG	XP_011524991.1:n.1146+124_1146+125insGG
XR_935783.2:n.1236+124_1236+125insGG