Canonical Allele Identifier: CA2585699052

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793613-TGGGGCAGGTGAGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793617_44793630del , CM000681.2:g.44793617_44793630del	GRCh38
NC_000019.9:g.45296874_45296887del , CM000681.1:g.45296874_45296887del	GRCh37
NC_000019.8:g.49988714_49988727del	NCBI36
NG_054718.1:g.20763_20776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1281_1284+10del
ENST00000270279.7:c.1281_1284+10del
ENST00000341505.4:c.1143_1146+10del
NM_001130852.1:c.1143_1146+10del
NM_012116.3:c.1281_1284+10del
XM_005258696.2:c.1281_1284+10del
XM_011526688.1:c.1281_1284+10del
XM_011526689.1:c.1143_1146+10del
XR_935783.1:n.1228_1231+10del
NM_012116.4:c.1281_1284+10del
XM_005258696.3:c.1281_1284+10del
XM_011526688.2:c.1281_1284+10del
XM_011526689.2:c.1143_1146+10del
XR_935783.2:n.1233_1236+10del