Canonical Allele Identifier: CA633315183

Gene: CBLC

Linked Data

• dbSNP Id: rs1483718722
• gnomAD v2: 19-45296705-AC-A
• MyVariant Identifiers: chr19:g.45296706del (hg19) ; chr19:g.44793449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793451del , CM000681.2:g.44793451del	GRCh38
NC_000019.9:g.45296708del , CM000681.1:g.45296708del	GRCh37
NC_000019.8:g.49988548del	NCBI36
NG_054718.1:g.20597del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647358.2:c.1138-23del MANE Select	ENSP00000494162.1:n.1138-23del
ENST00000270279.7:c.1138-23del	ENSP00000270279.3:n.1138-23del
ENST00000341505.4:c.1000-23del	ENSP00000340250.4:n.1000-23del
NM_001130852.1:c.1000-23del	NP_001124324.1:n.1000-23del
NM_012116.3:c.1138-23del	NP_036248.3:n.1138-23del
XM_005258696.2:c.1138-23del	XP_005258753.1:n.1138-23del
XM_011526688.1:c.1138-23del	XP_011524990.1:n.1138-23del
XM_011526689.1:c.1000-23del	XP_011524991.1:n.1000-23del
XR_935783.1:n.1085-23del
NM_012116.4:c.1138-23del MANE Select	NP_036248.3:n.1138-23del
XM_005258696.3:c.1138-23del	XP_005258753.1:n.1138-23del
XM_011526688.2:c.1138-23del	XP_011524990.1:n.1138-23del
XM_011526689.2:c.1000-23del	XP_011524991.1:n.1000-23del
XR_935783.2:n.1090-23del