Canonical Allele Identifier: CA5647027

Gene: CWF19L1

Linked Data

• dbSNP Id: rs779118978
• ExAC: 10:102005583 GAGA / G
• gnomAD v2: 10-102005583-GAGA-G
• gnomAD v3: 10-100245826-GAGA-G
• gnomAD v4: 10-100245826-GAGA-G
• MyVariant Identifiers: chr10:g.102005584_102005586del (hg19) ; chr10:g.100245828_100245830del (hg38) ; chr10:g.100245827_100245829del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100245830_100245832del , CM000672.2:g.100245830_100245832del	GRCh38
NC_000010.10:g.102005587_102005589del , CM000672.1:g.102005587_102005589del	GRCh37
NC_000010.9:g.101995577_101995579del	NCBI36
NG_041811.1:g.26853_26855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354105.10:c.934_936del MANE Select	ENSP00000326411.6:p.Ser312del
ENST00000354105.8:c.934_936del	ENSP00000326411.6:p.Ser312del
ENST00000370379.1:c.199_201del	ENSP00000359405.1:p.Ser67del
ENST00000466408.1:n.288_290del
ENST00000466955.5:n.475_477del
ENST00000468709.5:n.790_792del
ENST00000478047.1:n.1199+7592_1199+7594del
ENST00000482452.5:n.622_624del
ENST00000496796.5:n.698_700del
NM_001303404.1:c.934_936del	NP_001290333.1:p.Ser312del
NM_001303405.1:c.523_525del	NP_001290334.1:p.Ser175del
NM_001303406.1:c.523_525del	NP_001290335.1:p.Ser175del
NM_001303407.1:c.199_201del	NP_001290336.1:p.Ser67del
NM_018294.5:c.934_936del	NP_060764.3:p.Ser312del
NM_018294.6:c.934_936del MANE Select	NP_060764.3:p.Ser312del
NM_001303404.2:c.934_936del	NP_001290333.1:p.Ser312del
NM_001303405.2:c.523_525del	NP_001290334.1:p.Ser175del
NM_001303406.2:c.523_525del	NP_001290335.1:p.Ser175del
NM_001303407.2:c.199_201del	NP_001290336.1:p.Ser67del