Canonical Allele Identifier: CA2527573307
Gene: CWF19L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100238140_100238141insAGACGGTT , CM000672.2:g.100238140_100238141insAGACGGTT GRCh38
NC_000010.10:g.101997897_101997898insAGACGGTT , CM000672.1:g.101997897_101997898insAGACGGTT GRCh37
NC_000010.9:g.101987887_101987888insAGACGGTT NCBI36
NG_041811.1:g.34541_34542insAACCGTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354105.10:c.1135_1136insAACCGTCT MANE Select ENSP00000326411.6:p.Ala379GlufsTer7
ENST00000354105.8:c.1135_1136insAACCGTCT ENSP00000326411.6:p.Ala379GlufsTer7
ENST00000370379.1:c.400_401insAACCGTCT ENSP00000359405.1:p.Ala134GlufsTer7
ENST00000468709.5:n.991_992insAACCGTCT
ENST00000478047.1:n.1290_1291insAACCGTCT
ENST00000482452.5:n.818_819insAACCGTCT
NM_001303404.1:c.1135_1136insAACCGTCT NP_001290333.1:p.Ala379GlufsTer7
NM_001303405.1:c.724_725insAACCGTCT NP_001290334.1:p.Ala242GlufsTer7
NM_001303406.1:c.724_725insAACCGTCT NP_001290335.1:p.Ala242GlufsTer7
NM_001303407.1:c.400_401insAACCGTCT NP_001290336.1:p.Ala134GlufsTer7
NM_018294.5:c.1135_1136insAACCGTCT NP_060764.3:p.Ala379GlufsTer7
NM_018294.6:c.1135_1136insAACCGTCT MANE Select NP_060764.3:p.Ala379GlufsTer7
NM_001303404.2:c.1135_1136insAACCGTCT NP_001290333.1:p.Ala379GlufsTer7
NM_001303405.2:c.724_725insAACCGTCT NP_001290334.1:p.Ala242GlufsTer7
NM_001303406.2:c.724_725insAACCGTCT NP_001290335.1:p.Ala242GlufsTer7
NM_001303407.2:c.400_401insAACCGTCT NP_001290336.1:p.Ala134GlufsTer7