Canonical Allele Identifier: CA308902117

Gene: CBLC

Linked Data

• dbSNP Id: rs949439657
• gnomAD v3: 19-44793763-ACT-A
• gnomAD v4: 19-44793763-ACT-A
• MyVariant Identifiers: chr19:g.45297021_45297022del (hg19) ; chr19:g.44793764_44793765del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793766_44793767del , CM000681.2:g.44793766_44793767del	GRCh38
NC_000019.9:g.45297023_45297024del , CM000681.1:g.45297023_45297024del	GRCh37
NC_000019.8:g.49988863_49988864del	NCBI36
NG_054718.1:g.20912_20913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+146_1284+147del MANE Select	ENSP00000494162.1:n.1284+146_1284+147del
ENST00000270279.7:c.1284+146_1284+147del	ENSP00000270279.3:n.1284+146_1284+147del
ENST00000341505.4:c.1146+146_1146+147del	ENSP00000340250.4:n.1146+146_1146+147del
NM_001130852.1:c.1146+146_1146+147del	NP_001124324.1:n.1146+146_1146+147del
NM_012116.3:c.1284+146_1284+147del	NP_036248.3:n.1284+146_1284+147del
XM_005258696.2:c.1284+146_1284+147del	XP_005258753.1:n.1284+146_1284+147del
XM_011526688.1:c.1284+146_1284+147del	XP_011524990.1:n.1284+146_1284+147del
XM_011526689.1:c.1146+146_1146+147del	XP_011524991.1:n.1146+146_1146+147del
XR_935783.1:n.1231+146_1231+147del
NM_012116.4:c.1284+146_1284+147del MANE Select	NP_036248.3:n.1284+146_1284+147del
XM_005258696.3:c.1284+146_1284+147del	XP_005258753.1:n.1284+146_1284+147del
XM_011526688.2:c.1284+146_1284+147del	XP_011524990.1:n.1284+146_1284+147del
XM_011526689.2:c.1146+146_1146+147del	XP_011524991.1:n.1146+146_1146+147del
XR_935783.2:n.1236+146_1236+147del