Canonical Allele Identifier: CA915946531

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 817884
• ClinVar RCV Id: RCV001009109 ; RCV001235430
• dbSNP Id: rs1595763662

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351232_38351235del , CM000677.2:g.38351232_38351235del	GRCh38
NC_000015.9:g.38643433_38643436del , CM000677.1:g.38643433_38643436del	GRCh37
NC_000015.8:g.36430725_36430728del	NCBI36
NG_008980.1:g.103382_103385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.903_906del MANE Select	ENSP00000299084.4:p.Leu302ValfsTer16
ENST00000299084.8:c.903_906del	ENSP00000299084.4:p.Leu302ValfsTer16
NM_152594.2:c.903_906del	NP_689807.1:p.Leu302ValfsTer16
XM_005254202.2:c.939_942del	XP_005254259.1:p.Leu314ValfsTer16
XM_005254203.3:c.681_684del	XP_005254260.1:p.Leu228ValfsTer16
XM_011521288.1:c.840_843del	XP_011519590.1:p.Leu281ValfsTer16
XM_011521289.1:c.840_843del	XP_011519591.1:p.Leu281ValfsTer16
XM_011521290.1:c.840_843del	XP_011519592.1:p.Leu281ValfsTer16
XM_005254202.3:c.939_942del	XP_005254259.1:p.Leu314ValfsTer16
XM_011521289.3:c.840_843del	XP_011519591.1:p.Leu281ValfsTer16
NM_152594.3:c.903_906del MANE Select	NP_689807.1:p.Leu302ValfsTer16