Canonical Allele Identifier: CA10647671

Gene: SALL1

Linked Data

• ClinVar Variation Id: 319575
• ClinVar RCV Id: RCV000327970
• dbSNP Id: rs551203456
• gnomAD v2: 16-51169910-C-CA
• gnomAD v3: 16-51135999-C-CA
• gnomAD v4: 16-51135999-C-CA
• MyVariant Identifiers: chr16:g.51169911dupA (hg19) ; chr16:g.51169911_51169912insA (hg19) ; chr16:g.51169910_51169911insA (hg19) ; chr16:g.51136000dupA (hg38) ; chr16:g.51136000_51136001insA (hg38) ; chr16:g.51135999_51136000insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51136007dup , CM000678.2:g.51136007dup	GRCh38
NC_000016.9:g.51169918dup , CM000678.1:g.51169918dup	GRCh37
NC_000016.8:g.49727419dup	NCBI36
NG_007990.1:g.20273dup , LRG_674:g.20273dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000685868.1:c.*1112dup	ENSP00000509873.1:n.*1112dup
ENST00000251020.9:c.*1112dup MANE Select	ENSP00000251020.4:n.*1112dup
ENST00000251020.8:c.*1112dup	ENSP00000251020.4:n.*1112dup
ENST00000440970.5:c.*1112dup	ENSP00000407914.1:n.*1112dup
NM_001127892.1:c.*1112dup	NP_001121364.1:n.*1112dup
NM_002968.2:c.*1112dup , LRG_674t1:c.*1112dup	NP_002959.2:n.*1112dup
XM_006721241.2:c.*1112dup	XP_006721304.1:n.*1112dup
XM_011523254.1:c.*1112dup	XP_011521556.1:n.*1112dup
XM_011523255.1:c.*1112dup	XP_011521557.1:n.*1112dup
NM_002968.3:c.*1112dup MANE Select	NP_002959.2:n.*1112dup
NM_001127892.2:c.*1112dup	NP_001121364.1:n.*1112dup