Canonical Allele Identifier: CA2585699077

Gene: CBLC

Linked Data

• gnomAD v4: 19-44793663-CCTGAGTGGGGAGGGACTGGAGCCTGGACTCCTGGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793669_44793704del , CM000681.2:g.44793669_44793704del	GRCh38
NC_000019.9:g.45296926_45296961del , CM000681.1:g.45296926_45296961del	GRCh37
NC_000019.8:g.49988766_49988801del	NCBI36
NG_054718.1:g.20815_20850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+49_1284+84del MANE Select	ENSP00000494162.1:n.1284+49_1284+84del
ENST00000270279.7:c.1284+49_1284+84del	ENSP00000270279.3:n.1284+49_1284+84del
ENST00000341505.4:c.1146+49_1146+84del	ENSP00000340250.4:n.1146+49_1146+84del
NM_001130852.1:c.1146+49_1146+84del	NP_001124324.1:n.1146+49_1146+84del
NM_012116.3:c.1284+49_1284+84del	NP_036248.3:n.1284+49_1284+84del
XM_005258696.2:c.1284+49_1284+84del	XP_005258753.1:n.1284+49_1284+84del
XM_011526688.1:c.1284+49_1284+84del	XP_011524990.1:n.1284+49_1284+84del
XM_011526689.1:c.1146+49_1146+84del	XP_011524991.1:n.1146+49_1146+84del
XR_935783.1:n.1231+49_1231+84del
NM_012116.4:c.1284+49_1284+84del MANE Select	NP_036248.3:n.1284+49_1284+84del
XM_005258696.3:c.1284+49_1284+84del	XP_005258753.1:n.1284+49_1284+84del
XM_011526688.2:c.1284+49_1284+84del	XP_011524990.1:n.1284+49_1284+84del
XM_011526689.2:c.1146+49_1146+84del	XP_011524991.1:n.1146+49_1146+84del
XR_935783.2:n.1236+49_1236+84del