Canonical Allele Identifier: CA8053335
Community Standard Title: NM_002968.3(SALL1):c.1116_1118del (p.Ser375del)
Gene: SALL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51141109_51141111del , CM000678.2:g.51141109_51141111del GRCh38
NC_000016.9:g.51175020_51175022del , CM000678.1:g.51175020_51175022del GRCh37
NC_000016.8:g.49732521_49732523del NCBI36
NG_007990.1:g.15167_15169del , LRG_674:g.15167_15169del

Transcript Alleles

HGVS Amino-acid Change
NM_002968.3:c.1116_1118del MANE Select NP_002959.2:p.Ser373del
ENST00000251020.9:c.1116_1118del MANE Select ENSP00000251020.4:p.Ser373del
NM_001127892.1:c.825_827del NP_001121364.1:p.Ser276del
NM_001127892.2:c.825_827del NP_001121364.1:p.Ser276del
NM_002968.2:c.1116_1118del , LRG_674t1:c.1116_1118del NP_002959.2:p.Ser373del
ENST00000251020.8:c.1116_1118del ENSP00000251020.4:p.Ser373del
ENST00000440970.5:c.825_827del ENSP00000407914.1:p.Ser276del
ENST00000440970.6:c.1116_1118del ENSP00000407914.2:p.Ser373del
ENST00000566102.1:c.77-3554_77-3552del ENSP00000455582.1:n.77-3554_77-3552del
ENST00000570206.1:c.825_827del ENSP00000456777.1:p.Ser276del
ENST00000570206.2:c.825_827del ENSP00000456777.2:p.Ser276del
ENST00000685868.1:c.1116_1118del ENSP00000509873.1:p.Ser373del
ENST00000690502.1:c.1116_1118del ENSP00000510560.1:p.Ser373del
XM_006721241.2:c.1116_1118del XP_006721304.1:p.Ser373del
XM_011523254.1:c.1116_1118del XP_011521556.1:p.Ser373del
XM_011523255.1:c.1116_1118del XP_011521557.1:p.Ser373del