Canonical Allele Identifier: CA5646826

Gene: CWF19L1

Linked Data

• ClinVar Variation Id: 488455
• ClinVar RCV Id: RCV001093418 ; RCV000578265
• dbSNP Id: rs746710766
• ExAC: 10:101993043 TCTC / T
• gnomAD v2: 10-101993043-TCTC-T
• gnomAD v3: 10-100233286-TCTC-T
• gnomAD v4: 10-100233286-TCTC-T
• MyVariant Identifiers: chr10:g.101993044_101993046del (hg19) ; chr10:g.100233288_100233290del (hg38) ; chr10:g.100233287_100233289del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100233290_100233292del , CM000672.2:g.100233290_100233292del	GRCh38
NC_000010.10:g.101993047_101993049del , CM000672.1:g.101993047_101993049del	GRCh37
NC_000010.9:g.101983037_101983039del	NCBI36
NG_028023.1:g.1299_1301del
NG_041811.1:g.39393_39395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.1555_1557del MANE Select	ENSP00000326411.6:p.Glu519del
ENST00000354105.8:c.1555_1557del	ENSP00000326411.6:p.Glu519del
ENST00000370379.1:c.700_702del	ENSP00000359405.1:p.Glu234del
ENST00000468709.5:n.1411_1413del
ENST00000478047.1:n.1710_1712del
ENST00000482452.5:n.1238_1240del
NM_001303404.1:c.1435_1437del	NP_001290333.1:p.Glu479del
NM_001303405.1:c.1144_1146del	NP_001290334.1:p.Glu382del
NM_001303406.1:c.1144_1146del	NP_001290335.1:p.Glu382del
NM_001303407.1:c.820_822del	NP_001290336.1:p.Glu274del
NM_018294.5:c.1555_1557del	NP_060764.3:p.Glu519del
NM_018294.6:c.1555_1557del MANE Select	NP_060764.3:p.Glu519del
NM_001303404.2:c.1435_1437del	NP_001290333.1:p.Glu479del
NM_001303405.2:c.1144_1146del	NP_001290334.1:p.Glu382del
NM_001303406.2:c.1144_1146del	NP_001290335.1:p.Glu382del
NM_001303407.2:c.820_822del	NP_001290336.1:p.Glu274del