Canonical Allele Identifier: CA2740093330

Gene: SALL1

Linked Data

• ClinVar Variation Id: 3035419
• ClinVar RCV Id: RCV003911855

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.51141747_51141750delinsC , CM000678.2:g.51141747_51141750delinsC	GRCh38
NC_000016.9:g.51175658_51175661delinsC , CM000678.1:g.51175658_51175661delinsC	GRCh37
NC_000016.8:g.49733159_49733162delinsC	NCBI36
NG_007990.1:g.14523_14526delinsG , LRG_674:g.14523_14526delinsG

Transcript Alleles

HGVS	Amino-acid change
ENST00000440970.6:c.472_475delinsG	ENSP00000407914.2:p.Ser158_Ser159delinsGl...
ENST00000570206.2:c.181_184delinsG	ENSP00000456777.2:p.Ser61_Ser62delinsGly
ENST00000685868.1:c.472_475delinsG	ENSP00000509873.1:p.Ser158_Ser159delinsGl...
ENST00000690502.1:c.472_475delinsG	ENSP00000510560.1:p.Ser158_Ser159delinsGl...
ENST00000251020.9:c.472_475delinsG MANE Select	ENSP00000251020.4:p.Ser158_Ser159delinsGl...
ENST00000251020.8:c.472_475delinsG	ENSP00000251020.4:p.Ser158_Ser159delinsGl...
ENST00000440970.5:c.181_184delinsG	ENSP00000407914.1:p.Ser61_Ser62delinsGly
ENST00000566102.1:c.77-4198_77-4195delinsG	ENSP00000455582.1:n.77-4198_77-4195delins...
ENST00000570206.1:c.181_184delinsG	ENSP00000456777.1:p.Ser61_Ser62delinsGly
NM_001127892.1:c.181_184delinsG	NP_001121364.1:p.Ser61_Ser62delinsGly
NM_002968.2:c.472_475delinsG , LRG_674t1:c.472_475delinsG	NP_002959.2:p.Ser158_Ser159delinsGly
XM_006721241.2:c.472_475delinsG	XP_006721304.1:p.Ser158_Ser159delinsGly
XM_011523254.1:c.472_475delinsG	XP_011521556.1:p.Ser158_Ser159delinsGly
XM_011523255.1:c.472_475delinsG	XP_011521557.1:p.Ser158_Ser159delinsGly
NM_002968.3:c.472_475delinsG MANE Select	NP_002959.2:p.Ser158_Ser159delinsGly
NM_001127892.2:c.181_184delinsG	NP_001121364.1:p.Ser61_Ser62delinsGly