Canonical Allele Identifier: CA5647025

Gene: CWF19L1

Linked Data

• dbSNP Id: rs755387425
• ExAC: 10:102005579 TGAG / T
• gnomAD v2: 10-102005579-TGAG-T
• gnomAD v3: 10-100245822-TGAG-T
• gnomAD v4: 10-100245822-TGAG-T
• MyVariant Identifiers: chr10:g.102005580_102005582del (hg19) ; chr10:g.100245823_100245825del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100245826_100245828del , CM000672.2:g.100245826_100245828del	GRCh38
NC_000010.10:g.102005583_102005585del , CM000672.1:g.102005583_102005585del	GRCh37
NC_000010.9:g.101995573_101995575del	NCBI36
NG_041811.1:g.26857_26859del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354105.10:c.938_940del MANE Select	ENSP00000326411.6:p.Pro313del
ENST00000354105.8:c.938_940del	ENSP00000326411.6:p.Pro313del
ENST00000370379.1:c.203_205del	ENSP00000359405.1:p.Pro68del
ENST00000466408.1:n.292_294del
ENST00000466955.5:n.479_481del
ENST00000468709.5:n.794_796del
ENST00000478047.1:n.1200-7594_1200-7592del
ENST00000482452.5:n.626_628del
ENST00000496796.5:n.702_704del
NM_001303404.1:c.938_940del	NP_001290333.1:p.Pro313del
NM_001303405.1:c.527_529del	NP_001290334.1:p.Pro176del
NM_001303406.1:c.527_529del	NP_001290335.1:p.Pro176del
NM_001303407.1:c.203_205del	NP_001290336.1:p.Pro68del
NM_018294.5:c.938_940del	NP_060764.3:p.Pro313del
NM_018294.6:c.938_940del MANE Select	NP_060764.3:p.Pro313del
NM_001303404.2:c.938_940del	NP_001290333.1:p.Pro313del
NM_001303405.2:c.527_529del	NP_001290334.1:p.Pro176del
NM_001303406.2:c.527_529del	NP_001290335.1:p.Pro176del
NM_001303407.2:c.203_205del	NP_001290336.1:p.Pro68del