Canonical Allele Identifier: CA2573150666

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1676445
• ClinVar RCV Id: RCV002221827
• dbSNP Id: rs2140943428

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253209_38253210dup , CM000677.2:g.38253209_38253210dup	GRCh38
NC_000015.9:g.38545410_38545411dup , CM000677.1:g.38545410_38545411dup	GRCh37
NC_000015.8:g.36332702_36332703dup	NCBI36
NG_008980.1:g.5359_5360dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.24_25dup MANE Select	ENSP00000299084.4:p.Asp9ValfsTer14
ENST00000299084.8:c.24_25dup	ENSP00000299084.4:p.Asp9ValfsTer14
ENST00000561205.1:n.362_363dup
ENST00000561317.1:c.-104_-103dup	ENSP00000453680.1:n.-104_-103dup
NM_152594.2:c.24_25dup	NP_689807.1:p.Asp9ValfsTer14
XM_005254202.2:c.24_25dup	XP_005254259.1:p.Asp9ValfsTer26
XM_005254203.3:c.-24_-23dup	XP_005254260.1:n.-24_-23dup
XM_005254202.3:c.24_25dup	XP_005254259.1:p.Asp9ValfsTer26
XR_001751484.1:n.87+357_87+358dup
NM_152594.3:c.24_25dup MANE Select	NP_689807.1:p.Asp9ValfsTer14