Canonical Allele Identifier: CA10647679

Gene: SALL1

Linked Data

• ClinVar Variation Id: 319579
• ClinVar RCV Id: RCV000379240 ; RCV002510851
• dbSNP Id: rs527584319
• gnomAD v2: 16-51170094-CAAG-C
• gnomAD v3: 16-51136183-CAAG-C
• gnomAD v4: 16-51136183-CAAG-C
• MyVariant Identifiers: chr16:g.51170095_51170097del (hg19) ; chr16:g.51136184_51136186del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51136190_51136192del , CM000678.2:g.51136190_51136192del	GRCh38
NC_000016.9:g.51170101_51170103del , CM000678.1:g.51170101_51170103del	GRCh37
NC_000016.8:g.49727602_49727604del	NCBI36
NG_007990.1:g.20087_20089del , LRG_674:g.20087_20089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.*926_*928del	ENSP00000407914.2:n.*926_*928del
ENST00000685868.1:c.*926_*928del	ENSP00000509873.1:n.*926_*928del
ENST00000251020.9:c.*926_*928del MANE Select	ENSP00000251020.4:n.*926_*928del
ENST00000251020.8:c.*926_*928del	ENSP00000251020.4:n.*926_*928del
ENST00000440970.5:c.*926_*928del	ENSP00000407914.1:n.*926_*928del
NM_001127892.1:c.*926_*928del	NP_001121364.1:n.*926_*928del
NM_002968.2:c.*926_*928del , LRG_674t1:c.*926_*928del	NP_002959.2:n.*926_*928del
XM_006721241.2:c.*926_*928del	XP_006721304.1:n.*926_*928del
XM_011523254.1:c.*926_*928del	XP_011521556.1:n.*926_*928del
XM_011523255.1:c.*926_*928del	XP_011521557.1:n.*926_*928del
NM_002968.3:c.*926_*928del MANE Select	NP_002959.2:n.*926_*928del
NM_001127892.2:c.*926_*928del	NP_001121364.1:n.*926_*928del