Canonical Allele Identifier: CA2573054239

Gene: SALL1

Linked Data

• ClinVar Variation Id: 1311953
• ClinVar RCV Id: RCV001761174
• dbSNP Id: rs2143451190

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141747_51141759delinsC , CM000678.2:g.51141747_51141759delinsC	GRCh38
NC_000016.9:g.51175658_51175670delinsC , CM000678.1:g.51175658_51175670delinsC	GRCh37
NC_000016.8:g.49733159_49733171delinsC	NCBI36
NG_007990.1:g.14514_14526delinsG , LRG_674:g.14514_14526delinsG

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.463_475delinsG	ENSP00000407914.2:p.Ser155_Ser159delinsGl...
ENST00000570206.2:c.172_184delinsG	ENSP00000456777.2:p.Ser58_Ser62delinsGly
ENST00000685868.1:c.463_475delinsG	ENSP00000509873.1:p.Ser155_Ser159delinsGl...
ENST00000690502.1:c.463_475delinsG	ENSP00000510560.1:p.Ser155_Ser159delinsGl...
ENST00000251020.9:c.463_475delinsG MANE Select	ENSP00000251020.4:p.Ser155_Ser159delinsGl...
ENST00000251020.8:c.463_475delinsG	ENSP00000251020.4:p.Ser155_Ser159delinsGl...
ENST00000440970.5:c.172_184delinsG	ENSP00000407914.1:p.Ser58_Ser62delinsGly
ENST00000566102.1:c.77-4207_77-4195delinsG	ENSP00000455582.1:n.77-4207_77-4195delins...
ENST00000570206.1:c.172_184delinsG	ENSP00000456777.1:p.Ser58_Ser62delinsGly
NM_001127892.1:c.172_184delinsG	NP_001121364.1:p.Ser58_Ser62delinsGly
NM_002968.2:c.463_475delinsG , LRG_674t1:c.463_475delinsG	NP_002959.2:p.Ser155_Ser159delinsGly
XM_006721241.2:c.463_475delinsG	XP_006721304.1:p.Ser155_Ser159delinsGly
XM_011523254.1:c.463_475delinsG	XP_011521556.1:p.Ser155_Ser159delinsGly
XM_011523255.1:c.463_475delinsG	XP_011521557.1:p.Ser155_Ser159delinsGly
NM_002968.3:c.463_475delinsG MANE Select	NP_002959.2:p.Ser155_Ser159delinsGly
NM_001127892.2:c.172_184delinsG	NP_001121364.1:p.Ser58_Ser62delinsGly