Canonical Allele Identifier: CA996238652

Gene: CBLC

Linked Data

• gnomAD v3: 19-44793747-AGGGGTTG-A
• gnomAD v4: 19-44793747-AGGGGTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793749_44793755del , CM000681.2:g.44793749_44793755del	GRCh38
NC_000019.9:g.45297006_45297012del , CM000681.1:g.45297006_45297012del	GRCh37
NC_000019.8:g.49988846_49988852del	NCBI36
NG_054718.1:g.20895_20901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+129_1284+135del MANE Select	ENSP00000494162.1:n.1284+129_1284+135del
ENST00000270279.7:c.1284+129_1284+135del	ENSP00000270279.3:n.1284+129_1284+135del
ENST00000341505.4:c.1146+129_1146+135del	ENSP00000340250.4:n.1146+129_1146+135del
NM_001130852.1:c.1146+129_1146+135del	NP_001124324.1:n.1146+129_1146+135del
NM_012116.3:c.1284+129_1284+135del	NP_036248.3:n.1284+129_1284+135del
XM_005258696.2:c.1284+129_1284+135del	XP_005258753.1:n.1284+129_1284+135del
XM_011526688.1:c.1284+129_1284+135del	XP_011524990.1:n.1284+129_1284+135del
XM_011526689.1:c.1146+129_1146+135del	XP_011524991.1:n.1146+129_1146+135del
XR_935783.1:n.1231+129_1231+135del
NM_012116.4:c.1284+129_1284+135del MANE Select	NP_036248.3:n.1284+129_1284+135del
XM_005258696.3:c.1284+129_1284+135del	XP_005258753.1:n.1284+129_1284+135del
XM_011526688.2:c.1284+129_1284+135del	XP_011524990.1:n.1284+129_1284+135del
XM_011526689.2:c.1146+129_1146+135del	XP_011524991.1:n.1146+129_1146+135del
XR_935783.2:n.1236+129_1236+135del