Canonical Allele Identifier: CA9504112

Gene: CBLC

Linked Data

• dbSNP Id: rs768506085
• ExAC: 19:45296831 CAG / C
• gnomAD v2: 19-45296831-CAG-C
• gnomAD v3: 19-44793574-CAG-C
• gnomAD v4: 19-44793574-CAG-C
• MyVariant Identifiers: chr19:g.45296832_45296833del (hg19) ; chr19:g.44793575_44793576del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793575_44793576del , CM000681.2:g.44793575_44793576del	GRCh38
NC_000019.9:g.45296832_45296833del , CM000681.1:g.45296832_45296833del	GRCh37
NC_000019.8:g.49988672_49988673del	NCBI36
NG_054718.1:g.20721_20722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1239_1240del MANE Select	ENSP00000494162.1:p.Gly414GlufsTer4
ENST00000270279.7:c.1239_1240del	ENSP00000270279.3:p.Gly414GlufsTer4
ENST00000341505.4:c.1101_1102del	ENSP00000340250.4:p.Gly368GlufsTer4
NM_001130852.1:c.1101_1102del	NP_001124324.1:p.Gly368GlufsTer4
NM_012116.3:c.1239_1240del	NP_036248.3:p.Gly414GlufsTer4
XM_005258696.2:c.1239_1240del	XP_005258753.1:p.Gly414GlufsTer4
XM_011526688.1:c.1239_1240del	XP_011524990.1:p.Gly414GlufsTer4
XM_011526689.1:c.1101_1102del	XP_011524991.1:p.Gly368GlufsTer4
XR_935783.1:n.1186_1187del
NM_012116.4:c.1239_1240del MANE Select	NP_036248.3:p.Gly414GlufsTer4
XM_005258696.3:c.1239_1240del	XP_005258753.1:p.Gly414GlufsTer4
XM_011526688.2:c.1239_1240del	XP_011524990.1:p.Gly414GlufsTer4
XM_011526689.2:c.1101_1102del	XP_011524991.1:p.Gly368GlufsTer4
XR_935783.2:n.1191_1192del