Canonical Allele Identifier: CA8053448
Gene: SALL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258877
dbSNP Id: rs1555475414

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.51141744_51141746dup , CM000678.2:g.51141744_51141746dup GRCh38
NC_000016.9:g.51175655_51175657dup , CM000678.1:g.51175655_51175657dup GRCh37
NC_000016.8:g.49733156_49733158dup NCBI36
NG_007990.1:g.14538_14540dup , LRG_674:g.14538_14540dup

Transcript Alleles

HGVS Amino-acid change
ENST00000440970.6:c.487_489dup ENSP00000407914.2:p.Gly163_Ser164insGly
ENST00000570206.2:c.196_198dup ENSP00000456777.2:p.Gly66_Ser67insGly
ENST00000685868.1:c.487_489dup ENSP00000509873.1:p.Gly163_Ser164insGly
ENST00000690502.1:c.487_489dup ENSP00000510560.1:p.Gly163_Ser164insGly
ENST00000251020.9:c.487_489dup MANE Select ENSP00000251020.4:p.Gly163_Ser164insGly
ENST00000251020.8:c.487_489dup ENSP00000251020.4:p.Gly163_Ser164insGly
ENST00000440970.5:c.196_198dup ENSP00000407914.1:p.Gly66_Ser67insGly
ENST00000566102.1:c.77-4183_77-4181dup ENSP00000455582.1:n.77-4183_77-4181dup
ENST00000570206.1:c.196_198dup ENSP00000456777.1:p.Gly66_Ser67insGly
NM_001127892.1:c.196_198dup NP_001121364.1:p.Gly66_Ser67insGly
NM_002968.2:c.487_489dup , LRG_674t1:c.487_489dup NP_002959.2:p.Gly163_Ser164insGly
XM_006721241.2:c.487_489dup XP_006721304.1:p.Gly163_Ser164insGly
XM_011523254.1:c.487_489dup XP_011521556.1:p.Gly163_Ser164insGly
XM_011523255.1:c.487_489dup XP_011521557.1:p.Gly163_Ser164insGly
NM_002968.3:c.487_489dup MANE Select NP_002959.2:p.Gly163_Ser164insGly
NM_001127892.2:c.196_198dup NP_001121364.1:p.Gly66_Ser67insGly