Canonical Allele Identifier: CA2633181097

Gene: SALL1

Linked Data

• gnomAD v4: 16-51141735-C-CGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141737_51141738insTGC , CM000678.2:g.51141737_51141738insTGC	GRCh38
NC_000016.9:g.51175648_51175649insTGC , CM000678.1:g.51175648_51175649insTGC	GRCh37
NC_000016.8:g.49733149_49733150insTGC	NCBI36
NG_007990.1:g.14537_14538insAGC , LRG_674:g.14537_14538insAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.486_487insAGC	ENSP00000407914.2:p.Gly162_Gly163insSer
ENST00000570206.2:c.195_196insAGC	ENSP00000456777.2:p.Gly65_Gly66insSer
ENST00000685868.1:c.486_487insAGC	ENSP00000509873.1:p.Gly162_Gly163insSer
ENST00000690502.1:c.486_487insAGC	ENSP00000510560.1:p.Gly162_Gly163insSer
ENST00000251020.9:c.486_487insAGC MANE Select	ENSP00000251020.4:p.Gly162_Gly163insSer
ENST00000251020.8:c.486_487insAGC	ENSP00000251020.4:p.Gly162_Gly163insSer
ENST00000440970.5:c.195_196insAGC	ENSP00000407914.1:p.Gly65_Gly66insSer
ENST00000566102.1:c.77-4184_77-4183insAGC	ENSP00000455582.1:n.77-4184_77-4183insAGC
ENST00000570206.1:c.195_196insAGC	ENSP00000456777.1:p.Gly65_Gly66insSer
NM_001127892.1:c.195_196insAGC	NP_001121364.1:p.Gly65_Gly66insSer
NM_002968.2:c.486_487insAGC , LRG_674t1:c.486_487insAGC	NP_002959.2:p.Gly162_Gly163insSer
XM_006721241.2:c.486_487insAGC	XP_006721304.1:p.Gly162_Gly163insSer
XM_011523254.1:c.486_487insAGC	XP_011521556.1:p.Gly162_Gly163insSer
XM_011523255.1:c.486_487insAGC	XP_011521557.1:p.Gly162_Gly163insSer
NM_002968.3:c.486_487insAGC MANE Select	NP_002959.2:p.Gly162_Gly163insSer
NM_001127892.2:c.195_196insAGC	NP_001121364.1:p.Gly65_Gly66insSer