Canonical Allele Identifier: CA882679492

Gene: CBLC

Linked Data

• dbSNP Id: rs1445397109
• gnomAD v3: 19-44793363-CTCTG-C
• gnomAD v4: 19-44793363-CTCTG-C
• MyVariant Identifiers: chr19:g.45296621_45296624del (hg19) ; chr19:g.44793364_44793367del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793371_44793374del , CM000681.2:g.44793371_44793374del	GRCh38
NC_000019.9:g.45296628_45296631del , CM000681.1:g.45296628_45296631del	GRCh37
NC_000019.8:g.49988468_49988471del	NCBI36
NG_054718.1:g.20517_20520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1138-103_1138-100del MANE Select	ENSP00000494162.1:n.1138-103_1138-100del
ENST00000270279.7:c.1138-103_1138-100del	ENSP00000270279.3:n.1138-103_1138-100del
ENST00000341505.4:c.1000-103_1000-100del	ENSP00000340250.4:n.1000-103_1000-100del
NM_001130852.1:c.1000-103_1000-100del	NP_001124324.1:n.1000-103_1000-100del
NM_012116.3:c.1138-103_1138-100del	NP_036248.3:n.1138-103_1138-100del
XM_005258696.2:c.1138-103_1138-100del	XP_005258753.1:n.1138-103_1138-100del
XM_011526688.1:c.1138-103_1138-100del	XP_011524990.1:n.1138-103_1138-100del
XM_011526689.1:c.1000-103_1000-100del	XP_011524991.1:n.1000-103_1000-100del
XR_935783.1:n.1085-103_1085-100del
NM_012116.4:c.1138-103_1138-100del MANE Select	NP_036248.3:n.1138-103_1138-100del
XM_005258696.3:c.1138-103_1138-100del	XP_005258753.1:n.1138-103_1138-100del
XM_011526688.2:c.1138-103_1138-100del	XP_011524990.1:n.1138-103_1138-100del
XM_011526689.2:c.1000-103_1000-100del	XP_011524991.1:n.1000-103_1000-100del
XR_935783.2:n.1090-103_1090-100del