Canonical Allele Identifier: CA633315397

Gene: CBLC

Linked Data

• dbSNP Id: rs2122496554
• gnomAD v2: 19-45297039-AGGG-A
• gnomAD v3: 19-44793782-AGGG-A
• gnomAD v4: 19-44793782-AGGG-A
• MyVariant Identifiers: chr19:g.45297040_45297042del (hg19) ; chr19:g.44793783_44793785del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793783_44793785del , CM000681.2:g.44793783_44793785del	GRCh38
NC_000019.9:g.45297040_45297042del , CM000681.1:g.45297040_45297042del	GRCh37
NC_000019.8:g.49988880_49988882del	NCBI36
NG_054718.1:g.20929_20931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+163_1284+165del MANE Select	ENSP00000494162.1:n.1284+163_1284+165del
ENST00000270279.7:c.1284+163_1284+165del	ENSP00000270279.3:n.1284+163_1284+165del
ENST00000341505.4:c.1146+163_1146+165del	ENSP00000340250.4:n.1146+163_1146+165del
NM_001130852.1:c.1146+163_1146+165del	NP_001124324.1:n.1146+163_1146+165del
NM_012116.3:c.1284+163_1284+165del	NP_036248.3:n.1284+163_1284+165del
XM_005258696.2:c.1284+163_1284+165del	XP_005258753.1:n.1284+163_1284+165del
XM_011526688.1:c.1284+163_1284+165del	XP_011524990.1:n.1284+163_1284+165del
XM_011526689.1:c.1146+163_1146+165del	XP_011524991.1:n.1146+163_1146+165del
XR_935783.1:n.1231+163_1231+165del
NM_012116.4:c.1284+163_1284+165del MANE Select	NP_036248.3:n.1284+163_1284+165del
XM_005258696.3:c.1284+163_1284+165del	XP_005258753.1:n.1284+163_1284+165del
XM_011526688.2:c.1284+163_1284+165del	XP_011524990.1:n.1284+163_1284+165del
XM_011526689.2:c.1146+163_1146+165del	XP_011524991.1:n.1146+163_1146+165del
XR_935783.2:n.1236+163_1236+165del