Canonical Allele Identifier: CA633315375

Gene: CBLC

Linked Data

• gnomAD v2: 19-45296972-C-CTCCTGGGTCTGATGGAGGTGGGTA
• gnomAD v3: 19-44793715-C-CTCCTGGGTCTGATGGAGGTGGGTA
• gnomAD v4: 19-44793715-C-CTCCTGGGTCTGATGGAGGTGGGTA
• MyVariant Identifiers: chr19:g.45296972_45296973insTCCTGGGTCTGATGGAGGTGGGTA (hg19) ; chr19:g.44793715_44793716insTCCTGGGTCTGATGGAGGTGGGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793716_44793717insCCTGGGTCTGATGGAGGTGGGTAT , CM000681.2:g.44793716_44793717insCCTGGGTCTGATGGAGGTGGGTAT	GRCh38
NC_000019.9:g.45296973_45296974insCCTGGGTCTGATGGAGGTGGGTAT , CM000681.1:g.45296973_45296974insCCTGGGTCTGATGGAGGTGGGTAT	GRCh37
NC_000019.8:g.49988813_49988814insCCTGGGTCTGATGGAGGTGGGTAT	NCBI36
NG_054718.1:g.20862_20863insCCTGGGTCTGATGGAGGTGGGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT MANE Select	ENSP00000494162.1:n.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTA...
ENST00000270279.7:c.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT	ENSP00000270279.3:n.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTA...
ENST00000341505.4:c.1146+96_1146+97insCCTGGGTCTGATGGAGGTGGGTAT	ENSP00000340250.4:n.1146+96_1146+97insCCTGGGTCTGATGGAGGTGGGTA...
NM_001130852.1:c.1146+96_1146+97insCCTGGGTCTGATGGAGGTGGGTAT	NP_001124324.1:n.1146+96_1146+97insCCTGGGTCTGATGGAGGTGGGTAT
NM_012116.3:c.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT	NP_036248.3:n.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT
XM_005258696.2:c.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT	XP_005258753.1:n.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT
XM_011526688.1:c.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT	XP_011524990.1:n.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT
XM_011526689.1:c.1146+96_1146+97insCCTGGGTCTGATGGAGGTGGGTAT	XP_011524991.1:n.1146+96_1146+97insCCTGGGTCTGATGGAGGTGGGTAT
XR_935783.1:n.1231+96_1231+97insCCTGGGTCTGATGGAGGTGGGTAT
NM_012116.4:c.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT MANE Select	NP_036248.3:n.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT
XM_005258696.3:c.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT	XP_005258753.1:n.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT
XM_011526688.2:c.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT	XP_011524990.1:n.1284+96_1284+97insCCTGGGTCTGATGGAGGTGGGTAT
XM_011526689.2:c.1146+96_1146+97insCCTGGGTCTGATGGAGGTGGGTAT	XP_011524991.1:n.1146+96_1146+97insCCTGGGTCTGATGGAGGTGGGTAT
XR_935783.2:n.1236+96_1236+97insCCTGGGTCTGATGGAGGTGGGTAT