Canonical Allele Identifier: CA977269344

Gene: SALL1

Linked Data

• dbSNP Id: rs1962295954
• gnomAD v3: 16-51136266-A-AC
• gnomAD v4: 16-51136266-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51136267dup , CM000678.2:g.51136267dup	GRCh38
NC_000016.9:g.51170178dup , CM000678.1:g.51170178dup	GRCh37
NC_000016.8:g.49727679dup	NCBI36
NG_007990.1:g.20006dup , LRG_674:g.20006dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.*845dup	ENSP00000407914.2:n.*845dup
ENST00000685868.1:c.*845dup	ENSP00000509873.1:n.*845dup
ENST00000251020.9:c.*845dup MANE Select	ENSP00000251020.4:n.*845dup
ENST00000251020.8:c.*845dup	ENSP00000251020.4:n.*845dup
ENST00000440970.5:c.*845dup	ENSP00000407914.1:n.*845dup
NM_001127892.1:c.*845dup	NP_001121364.1:n.*845dup
NM_002968.2:c.*845dup , LRG_674t1:c.*845dup	NP_002959.2:n.*845dup
XM_006721241.2:c.*845dup	XP_006721304.1:n.*845dup
XM_011523254.1:c.*845dup	XP_011521556.1:n.*845dup
XM_011523255.1:c.*845dup	XP_011521557.1:n.*845dup
NM_002968.3:c.*845dup MANE Select	NP_002959.2:n.*845dup
NM_001127892.2:c.*845dup	NP_001121364.1:n.*845dup