Canonical Allele Identifier: CA882679746

Gene: CBLC

Linked Data

• dbSNP Id: rs1240785274
• gnomAD v3: 19-44793732-TGG-T
• gnomAD v4: 19-44793732-TGG-T
• MyVariant Identifiers: chr19:g.45296990_45296991del (hg19) ; chr19:g.44793733_44793734del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793734_44793735del , CM000681.2:g.44793734_44793735del	GRCh38
NC_000019.9:g.45296991_45296992del , CM000681.1:g.45296991_45296992del	GRCh37
NC_000019.8:g.49988831_49988832del	NCBI36
NG_054718.1:g.20880_20881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+114_1284+115del MANE Select	ENSP00000494162.1:n.1284+114_1284+115del
ENST00000270279.7:c.1284+114_1284+115del	ENSP00000270279.3:n.1284+114_1284+115del
ENST00000341505.4:c.1146+114_1146+115del	ENSP00000340250.4:n.1146+114_1146+115del
NM_001130852.1:c.1146+114_1146+115del	NP_001124324.1:n.1146+114_1146+115del
NM_012116.3:c.1284+114_1284+115del	NP_036248.3:n.1284+114_1284+115del
XM_005258696.2:c.1284+114_1284+115del	XP_005258753.1:n.1284+114_1284+115del
XM_011526688.1:c.1284+114_1284+115del	XP_011524990.1:n.1284+114_1284+115del
XM_011526689.1:c.1146+114_1146+115del	XP_011524991.1:n.1146+114_1146+115del
XR_935783.1:n.1231+114_1231+115del
NM_012116.4:c.1284+114_1284+115del MANE Select	NP_036248.3:n.1284+114_1284+115del
XM_005258696.3:c.1284+114_1284+115del	XP_005258753.1:n.1284+114_1284+115del
XM_011526688.2:c.1284+114_1284+115del	XP_011524990.1:n.1284+114_1284+115del
XM_011526689.2:c.1146+114_1146+115del	XP_011524991.1:n.1146+114_1146+115del
XR_935783.2:n.1236+114_1236+115del