Canonical Allele Identifier: CA2739278945

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2914367
• ClinVar RCV Id: RCV003601905

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253220_38253223dup , CM000677.2:g.38253220_38253223dup	GRCh38
NC_000015.9:g.38545421_38545424dup , CM000677.1:g.38545421_38545424dup	GRCh37
NC_000015.8:g.36332713_36332716dup	NCBI36
NG_008980.1:g.5370_5373dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.32+3_32+6dup MANE Select	ENSP00000299084.4:n.32+3_32+6dup
ENST00000299084.8:c.32+3_32+6dup	ENSP00000299084.4:n.32+3_32+6dup
ENST00000561205.1:n.370+3_370+6dup
ENST00000561317.1:c.-96+3_-96+6dup	ENSP00000453680.1:n.-96+3_-96+6dup
NM_152594.2:c.32+3_32+6dup	NP_689807.1:n.32+3_32+6dup
XM_005254202.2:c.32+3_32+6dup	XP_005254259.1:n.32+3_32+6dup
XM_005254203.3:c.-16+3_-16+6dup	XP_005254260.1:n.-16+3_-16+6dup
XM_005254202.3:c.32+3_32+6dup	XP_005254259.1:n.32+3_32+6dup
XR_001751484.1:n.87+344_87+347dup
NM_152594.3:c.32+3_32+6dup MANE Select	NP_689807.1:n.32+3_32+6dup