Canonical Allele Identifier: CA622243743

Gene: SALL1

Linked Data

• dbSNP Id: rs1425410654
• gnomAD v2: 16-51169994-CCCTTT-C
• gnomAD v3: 16-51136083-CCCTTT-C
• gnomAD v4: 16-51136083-CCCTTT-C
• MyVariant Identifiers: chr16:g.51169995_51169999del (hg19) ; chr16:g.51136084_51136088del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51136090_51136094del , CM000678.2:g.51136090_51136094del	GRCh38
NC_000016.9:g.51170001_51170005del , CM000678.1:g.51170001_51170005del	GRCh37
NC_000016.8:g.49727502_49727506del	NCBI36
NG_007990.1:g.20185_20189del , LRG_674:g.20185_20189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.*1024_*1028del	ENSP00000407914.2:n.*1024_*1028del
ENST00000685868.1:c.*1024_*1028del	ENSP00000509873.1:n.*1024_*1028del
ENST00000251020.9:c.*1024_*1028del MANE Select	ENSP00000251020.4:n.*1024_*1028del
ENST00000251020.8:c.*1024_*1028del	ENSP00000251020.4:n.*1024_*1028del
ENST00000440970.5:c.*1024_*1028del	ENSP00000407914.1:n.*1024_*1028del
NM_001127892.1:c.*1024_*1028del	NP_001121364.1:n.*1024_*1028del
NM_002968.2:c.*1024_*1028del , LRG_674t1:c.*1024_*1028del	NP_002959.2:n.*1024_*1028del
XM_006721241.2:c.*1024_*1028del	XP_006721304.1:n.*1024_*1028del
XM_011523254.1:c.*1024_*1028del	XP_011521556.1:n.*1024_*1028del
XM_011523255.1:c.*1024_*1028del	XP_011521557.1:n.*1024_*1028del
NM_002968.3:c.*1024_*1028del MANE Select	NP_002959.2:n.*1024_*1028del
NM_001127892.2:c.*1024_*1028del	NP_001121364.1:n.*1024_*1028del