Canonical Allele Identifier: CA2695223395

Gene: SALL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141177dup , CM000678.2:g.51141177dup	GRCh38
NC_000016.9:g.51175088dup , CM000678.1:g.51175088dup	GRCh37
NC_000016.8:g.49732589dup	NCBI36
NG_007990.1:g.15096dup , LRG_674:g.15096dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.1045dup	ENSP00000407914.2:p.Thr349AsnfsTer6
ENST00000570206.2:c.754dup	ENSP00000456777.2:p.Thr252AsnfsTer6
ENST00000685868.1:c.1045dup	ENSP00000509873.1:p.Thr349AsnfsTer6
ENST00000690502.1:c.1045dup	ENSP00000510560.1:p.Thr349AsnfsTer6
ENST00000251020.9:c.1045dup MANE Select	ENSP00000251020.4:p.Thr349AsnfsTer6
ENST00000251020.8:c.1045dup	ENSP00000251020.4:p.Thr349AsnfsTer6
ENST00000440970.5:c.754dup	ENSP00000407914.1:p.Thr252AsnfsTer6
ENST00000566102.1:c.77-3625dup	ENSP00000455582.1:n.77-3625dup
ENST00000570206.1:c.754dup	ENSP00000456777.1:p.Thr252AsnfsTer6
NM_001127892.1:c.754dup	NP_001121364.1:p.Thr252AsnfsTer6
NM_002968.2:c.1045dup , LRG_674t1:c.1045dup	NP_002959.2:p.Thr349AsnfsTer6
XM_006721241.2:c.1045dup	XP_006721304.1:p.Thr349AsnfsTer6
XM_011523254.1:c.1045dup	XP_011521556.1:p.Thr349AsnfsTer6
XM_011523255.1:c.1045dup	XP_011521557.1:p.Thr349AsnfsTer6
NM_002968.3:c.1045dup MANE Select	NP_002959.2:p.Thr349AsnfsTer6
NM_001127892.2:c.754dup	NP_001121364.1:p.Thr252AsnfsTer6