Canonical Allele Identifier: CA2633181822

Gene: SALL1

Linked Data

• gnomAD v4: 16-51141163-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141166_51141168del , CM000678.2:g.51141166_51141168del	GRCh38
NC_000016.9:g.51175077_51175079del , CM000678.1:g.51175077_51175079del	GRCh37
NC_000016.8:g.49732578_49732580del	NCBI36
NG_007990.1:g.15107_15109del , LRG_674:g.15107_15109del

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.1056_1058del	ENSP00000407914.2:p.Ser353del
ENST00000570206.2:c.765_767del	ENSP00000456777.2:p.Ser256del
ENST00000685868.1:c.1056_1058del	ENSP00000509873.1:p.Ser353del
ENST00000690502.1:c.1056_1058del	ENSP00000510560.1:p.Ser353del
ENST00000251020.9:c.1056_1058del MANE Select	ENSP00000251020.4:p.Ser353del
ENST00000251020.8:c.1056_1058del	ENSP00000251020.4:p.Ser353del
ENST00000440970.5:c.765_767del	ENSP00000407914.1:p.Ser256del
ENST00000566102.1:c.77-3614_77-3612del	ENSP00000455582.1:n.77-3614_77-3612del
ENST00000570206.1:c.765_767del	ENSP00000456777.1:p.Ser256del
NM_001127892.1:c.765_767del	NP_001121364.1:p.Ser256del
NM_002968.2:c.1056_1058del , LRG_674t1:c.1056_1058del	NP_002959.2:p.Ser353del
XM_006721241.2:c.1056_1058del	XP_006721304.1:p.Ser353del
XM_011523254.1:c.1056_1058del	XP_011521556.1:p.Ser353del
XM_011523255.1:c.1056_1058del	XP_011521557.1:p.Ser353del
NM_002968.3:c.1056_1058del MANE Select	NP_002959.2:p.Ser353del
NM_001127892.2:c.765_767del	NP_001121364.1:p.Ser256del