Canonical Allele Identifier: CA617561332

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2572233
• ClinVar RCV Id: RCV003314118
• dbSNP Id: rs1424526290
• gnomAD v2: 15-38643391-T-TA
• gnomAD v4: 15-38351190-T-TA
• MyVariant Identifiers: chr15:g.38643391_38643392insA (hg19) ; chr15:g.38351190_38351191insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351196dup , CM000677.2:g.38351196dup	GRCh38
NC_000015.9:g.38643397dup , CM000677.1:g.38643397dup	GRCh37
NC_000015.8:g.36430689dup	NCBI36
NG_008980.1:g.103346dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.867dup MANE Select	ENSP00000299084.4:p.Ser290IlefsTer10
ENST00000299084.8:c.867dup	ENSP00000299084.4:p.Ser290IlefsTer10
NM_152594.2:c.867dup	NP_689807.1:p.Ser290IlefsTer10
XM_005254202.2:c.903dup	XP_005254259.1:p.Ser302IlefsTer10
XM_005254203.3:c.645dup	XP_005254260.1:p.Ser216IlefsTer10
XM_011521288.1:c.804dup	XP_011519590.1:p.Ser269IlefsTer10
XM_011521289.1:c.804dup	XP_011519591.1:p.Ser269IlefsTer10
XM_011521290.1:c.804dup	XP_011519592.1:p.Ser269IlefsTer10
XM_005254202.3:c.903dup	XP_005254259.1:p.Ser302IlefsTer10
XM_011521289.3:c.804dup	XP_011519591.1:p.Ser269IlefsTer10
NM_152594.3:c.867dup MANE Select	NP_689807.1:p.Ser290IlefsTer10