Canonical Allele Identifier: CA977269210
Gene: SALL1 HGNC NCBI

Linked Data

dbSNP Id: rs1962289182
gnomAD v3: 16-51136007-AT-A
gnomAD v4: 16-51136007-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51136008del , CM000678.2:g.51136008del GRCh38
NC_000016.9:g.51169919del , CM000678.1:g.51169919del GRCh37
NC_000016.8:g.49727420del NCBI36
NG_007990.1:g.20265del , LRG_674:g.20265del

Transcript Alleles

HGVS Amino-acid Change
ENST00000685868.1:c.*1104del ENSP00000509873.1:n.*1104del
ENST00000251020.9:c.*1104del MANE Select ENSP00000251020.4:n.*1104del
ENST00000251020.8:c.*1104del ENSP00000251020.4:n.*1104del
ENST00000440970.5:c.*1104del ENSP00000407914.1:n.*1104del
NM_001127892.1:c.*1104del NP_001121364.1:n.*1104del
NM_002968.2:c.*1104del , LRG_674t1:c.*1104del NP_002959.2:n.*1104del
XM_006721241.2:c.*1104del XP_006721304.1:n.*1104del
XM_011523254.1:c.*1104del XP_011521556.1:n.*1104del
XM_011523255.1:c.*1104del XP_011521557.1:n.*1104del
NM_002968.3:c.*1104del MANE Select NP_002959.2:n.*1104del
NM_001127892.2:c.*1104del NP_001121364.1:n.*1104del
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