Canonical Allele Identifier: CA891844566
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 573472
dbSNP Id: rs1566867209

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38322267dup , CM000677.2:g.38322267dup GRCh38
NC_000015.9:g.38614468dup , CM000677.1:g.38614468dup GRCh37
NC_000015.8:g.36401760dup NCBI36
NG_008980.1:g.74417dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.234dup MANE Select ENSP00000299084.4:p.Asp79ArgfsTer5
ENST00000299084.8:c.234dup ENSP00000299084.4:p.Asp79ArgfsTer5
ENST00000561205.1:n.572dup
ENST00000561317.1:c.171dup ENSP00000453680.1:p.Asp58ArgfsTer5
NM_152594.2:c.234dup NP_689807.1:p.Asp79ArgfsTer5
XM_005254202.2:c.270dup XP_005254259.1:p.Asp91ArgfsTer5
XM_005254203.3:c.12dup XP_005254260.1:p.Asp5ArgfsTer5
XM_011521288.1:c.171dup XP_011519590.1:p.Asp58ArgfsTer5
XM_011521289.1:c.171dup XP_011519591.1:p.Asp58ArgfsTer5
XM_011521290.1:c.171dup XP_011519592.1:p.Asp58ArgfsTer5
XM_005254202.3:c.270dup XP_005254259.1:p.Asp91ArgfsTer5
XM_011521289.3:c.171dup XP_011519591.1:p.Asp58ArgfsTer5
NM_152594.3:c.234dup MANE Select NP_689807.1:p.Asp79ArgfsTer5