Canonical Allele Identifier: CA16620211
Gene: SALL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424424
ClinVar RCV Id: RCV000479335
dbSNP Id: rs1064796960

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51140842_51140843del , CM000678.2:g.51140842_51140843del GRCh38
NC_000016.9:g.51174753_51174754del , CM000678.1:g.51174753_51174754del GRCh37
NC_000016.8:g.49732254_49732255del NCBI36
NG_007990.1:g.15431_15432del , LRG_674:g.15431_15432del

Transcript Alleles

HGVS Amino-acid change
ENST00000440970.6:c.1380_1381del ENSP00000407914.2:p.Ser460ArgfsTer?
ENST00000570206.2:c.1089_1090del ENSP00000456777.2:p.Ser363ArgfsTer?
ENST00000685868.1:c.1380_1381del ENSP00000509873.1:p.Ser460ArgfsTer?
ENST00000690502.1:c.1380_1381del ENSP00000510560.1:p.Ser460ArgfsTer?
ENST00000251020.9:c.1380_1381del MANE Select ENSP00000251020.4:p.Ser460ArgfsTer?
ENST00000251020.8:c.1380_1381del ENSP00000251020.4:p.Ser460ArgfsTer?
ENST00000440970.5:c.1089_1090del ENSP00000407914.1:p.Ser363ArgfsTer?
ENST00000566102.1:c.77-3290_77-3289del ENSP00000455582.1:n.77-3290_77-3289del
ENST00000570206.1:c.1089_1090del ENSP00000456777.1:p.Ser363ArgfsTer?
NM_001127892.1:c.1089_1090del NP_001121364.1:p.Ser363ArgfsTer?
NM_002968.2:c.1380_1381del , LRG_674t1:c.1380_1381del NP_002959.2:p.Ser460ArgfsTer?
XM_006721241.2:c.1380_1381del XP_006721304.1:p.Ser460ArgfsTer?
XM_011523254.1:c.1380_1381del XP_011521556.1:p.Ser460ArgfsTer?
XM_011523255.1:c.1380_1381del XP_011521557.1:p.Ser460ArgfsTer?
NM_002968.3:c.1380_1381del MANE Select NP_002959.2:p.Ser460ArgfsTer?
NM_001127892.2:c.1089_1090del NP_001121364.1:p.Ser363ArgfsTer?