Canonical Allele Identifier: CA2695223340

Gene: SALL1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51138972_51138978del , CM000678.2:g.51138972_51138978del	GRCh38
NC_000016.9:g.51172883_51172889del , CM000678.1:g.51172883_51172889del	GRCh37
NC_000016.8:g.49730384_49730390del	NCBI36
NG_007990.1:g.17300_17306del , LRG_674:g.17300_17306del

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.3249_3255del	ENSP00000407914.2:p.Leu1084ArgfsTer?
ENST00000570206.2:c.2958_2964del	ENSP00000456777.2:p.Leu987ArgfsTer?
ENST00000685868.1:c.3249_3255del	ENSP00000509873.1:p.Leu1084ArgfsTer?
ENST00000690502.1:c.3249_3255del	ENSP00000510560.1:p.Leu1084ArgfsTer?
ENST00000251020.9:c.3249_3255del MANE Select	ENSP00000251020.4:p.Leu1084ArgfsTer?
ENST00000251020.8:c.3249_3255del	ENSP00000251020.4:p.Leu1084ArgfsTer?
ENST00000440970.5:c.2958_2964del	ENSP00000407914.1:p.Leu987ArgfsTer?
ENST00000566102.1:c.77-1421_77-1415del	ENSP00000455582.1:n.77-1421_77-1415del
ENST00000570206.1:c.2958_2964del	ENSP00000456777.1:p.Leu987ArgfsTer?
NM_001127892.1:c.2958_2964del	NP_001121364.1:p.Leu987ArgfsTer?
NM_002968.2:c.3249_3255del , LRG_674t1:c.3249_3255del	NP_002959.2:p.Leu1084ArgfsTer?
XM_006721241.2:c.3249_3255del	XP_006721304.1:p.Leu1084ArgfsTer?
XM_011523254.1:c.3249_3255del	XP_011521556.1:p.Leu1084ArgfsTer?
XM_011523255.1:c.3249_3255del	XP_011521557.1:p.Leu1084ArgfsTer?
NM_002968.3:c.3249_3255del MANE Select	NP_002959.2:p.Leu1084ArgfsTer?
NM_001127892.2:c.2958_2964del	NP_001121364.1:p.Leu987ArgfsTer?