Canonical Allele Identifier: CA2222017057

Gene: SALL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51138929_51138932delinsTGAG , CM000678.2:g.51138929_51138932delinsTGAG	GRCh38
NC_000016.9:g.51172840_51172843delinsTGAG , CM000678.1:g.51172840_51172843delinsTGAG	GRCh37
NC_000016.8:g.49730341_49730344delinsTGAG	NCBI36
NG_007990.1:g.17341_17344delinsCTCA , LRG_674:g.17341_17344delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440970.6:c.3290_3293delinsCTCA	ENSP00000407914.2:p.Pro1097=
ENST00000570206.2:c.2999_3002delinsCTCA	ENSP00000456777.2:p.Pro1000=
ENST00000685868.1:c.3290_3293delinsCTCA	ENSP00000509873.1:p.Pro1097=
ENST00000690502.1:c.3290_3293delinsCTCA	ENSP00000510560.1:p.Pro1097=
ENST00000251020.9:c.3290_3293delinsCTCA MANE Select	ENSP00000251020.4:p.Pro1097=
ENST00000251020.8:c.3290_3293delinsCTCA	ENSP00000251020.4:p.Pro1097=
ENST00000440970.5:c.2999_3002delinsCTCA	ENSP00000407914.1:p.Pro1000=
ENST00000566102.1:c.77-1380_77-1377delinsCTCA	ENSP00000455582.1:n.77-1380_77-1377delinsCTCA
ENST00000570206.1:c.2999_3002delinsCTCA	ENSP00000456777.1:p.Pro1000=
NM_001127892.1:c.2999_3002delinsCTCA	NP_001121364.1:p.Pro1000=
NM_002968.2:c.3290_3293delinsCTCA , LRG_674t1:c.3290_3293delinsCTCA	NP_002959.2:p.Pro1097=
XM_006721241.2:c.3290_3293delinsCTCA	XP_006721304.1:p.Pro1097=
XM_011523254.1:c.3290_3293delinsCTCA	XP_011521556.1:p.Pro1097=
XM_011523255.1:c.3290_3293delinsCTCA	XP_011521557.1:p.Pro1097=
NM_002968.3:c.3290_3293delinsCTCA MANE Select	NP_002959.2:p.Pro1097=
NM_001127892.2:c.2999_3002delinsCTCA	NP_001121364.1:p.Pro1000=