Canonical Allele Identifier: CA2697554334

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2749828
• ClinVar RCV Id: RCV003498299

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351025del , CM000677.2:g.38351025del	GRCh38
NC_000015.9:g.38643226del , CM000677.1:g.38643226del	GRCh37
NC_000015.8:g.36430518del	NCBI36
NG_008980.1:g.103175del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.696del MANE Select	ENSP00000299084.4:p.Lys232AsnfsTer17
ENST00000299084.8:c.696del	ENSP00000299084.4:p.Lys232AsnfsTer17
NM_152594.2:c.696del	NP_689807.1:p.Lys232AsnfsTer17
XM_005254202.2:c.732del	XP_005254259.1:p.Lys244AsnfsTer17
XM_005254203.3:c.474del	XP_005254260.1:p.Lys158AsnfsTer17
XM_011521288.1:c.633del	XP_011519590.1:p.Lys211AsnfsTer17
XM_011521289.1:c.633del	XP_011519591.1:p.Lys211AsnfsTer17
XM_011521290.1:c.633del	XP_011519592.1:p.Lys211AsnfsTer17
XM_005254202.3:c.732del	XP_005254259.1:p.Lys244AsnfsTer17
XM_011521289.3:c.633del	XP_011519591.1:p.Lys211AsnfsTer17
NM_152594.3:c.696del MANE Select	NP_689807.1:p.Lys232AsnfsTer17