Canonical Allele Identifier: CA2222078363
Gene: SALL1 HGNC NCBI

Linked Data

dbSNP Id: rs1962299704
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51136452_51136454del , CM000678.2:g.51136452_51136454del GRCh38
NC_000016.9:g.51170363_51170365del , CM000678.1:g.51170363_51170365del GRCh37
NC_000016.8:g.49727864_49727866del NCBI36
NG_007990.1:g.19822_19824del , LRG_674:g.19822_19824del

Transcript Alleles

HGVS Amino-acid change
ENST00000440970.6:c.*661_*663del ENSP00000407914.2:n.*661_*663del
ENST00000685868.1:c.*661_*663del ENSP00000509873.1:n.*661_*663del
ENST00000251020.9:c.*661_*663del MANE Select ENSP00000251020.4:n.*661_*663del
ENST00000251020.8:c.*661_*663del ENSP00000251020.4:n.*661_*663del
ENST00000440970.5:c.*661_*663del ENSP00000407914.1:n.*661_*663del
NM_001127892.1:c.*661_*663del NP_001121364.1:n.*661_*663del
NM_002968.2:c.*661_*663del , LRG_674t1:c.*661_*663del NP_002959.2:n.*661_*663del
XM_006721241.2:c.*661_*663del XP_006721304.1:n.*661_*663del
XM_011523254.1:c.*661_*663del XP_011521556.1:n.*661_*663del
XM_011523255.1:c.*661_*663del XP_011521557.1:n.*661_*663del
NM_002968.3:c.*661_*663del MANE Select NP_002959.2:n.*661_*663del
NM_001127892.2:c.*661_*663del NP_001121364.1:n.*661_*663del
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