Canonical Allele Identifier: CA658658470

Gene: SALL1

Linked Data

• ClinVar Variation Id: 459257
• ClinVar RCV Id: RCV000548925
• dbSNP Id: rs1555475275
• MyVariant Identifiers: chr16:g.51174919dup (hg19) ; chr16:g.51141008dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141010dup , CM000678.2:g.51141010dup	GRCh38
NC_000016.9:g.51174921dup , CM000678.1:g.51174921dup	GRCh37
NC_000016.8:g.49732422dup	NCBI36
NG_007990.1:g.15265dup , LRG_674:g.15265dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.1214dup	ENSP00000407914.2:p.Leu406PhefsTer?
ENST00000570206.2:c.923dup	ENSP00000456777.2:p.Leu309PhefsTer?
ENST00000685868.1:c.1214dup	ENSP00000509873.1:p.Leu406PhefsTer?
ENST00000690502.1:c.1214dup	ENSP00000510560.1:p.Leu406PhefsTer?
ENST00000251020.9:c.1214dup MANE Select	ENSP00000251020.4:p.Leu406PhefsTer?
ENST00000251020.8:c.1214dup	ENSP00000251020.4:p.Leu406PhefsTer?
ENST00000440970.5:c.923dup	ENSP00000407914.1:p.Leu309PhefsTer?
ENST00000566102.1:c.77-3456dup	ENSP00000455582.1:n.77-3456dup
ENST00000570206.1:c.923dup	ENSP00000456777.1:p.Leu309PhefsTer?
NM_001127892.1:c.923dup	NP_001121364.1:p.Leu309PhefsTer?
NM_002968.2:c.1214dup , LRG_674t1:c.1214dup	NP_002959.2:p.Leu406PhefsTer?
XM_006721241.2:c.1214dup	XP_006721304.1:p.Leu406PhefsTer?
XM_011523254.1:c.1214dup	XP_011521556.1:p.Leu406PhefsTer?
XM_011523255.1:c.1214dup	XP_011521557.1:p.Leu406PhefsTer?
NM_002968.3:c.1214dup MANE Select	NP_002959.2:p.Leu406PhefsTer?
NM_001127892.2:c.923dup	NP_001121364.1:p.Leu309PhefsTer?