Canonical Allele Identifier: CA2573150669

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1415230
• ClinVar RCV Id: RCV001945500
• dbSNP Id: rs2141016007

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351021del , CM000677.2:g.38351021del	GRCh38
NC_000015.9:g.38643222del , CM000677.1:g.38643222del	GRCh37
NC_000015.8:g.36430514del	NCBI36
NG_008980.1:g.103171del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.692del MANE Select	ENSP00000299084.4:p.Leu231Ter
ENST00000299084.8:c.692del	ENSP00000299084.4:p.Leu231Ter
NM_152594.2:c.692del	NP_689807.1:p.Leu231Ter
XM_005254202.2:c.728del	XP_005254259.1:p.Leu243Ter
XM_005254203.3:c.470del	XP_005254260.1:p.Leu157Ter
XM_011521288.1:c.629del	XP_011519590.1:p.Leu210Ter
XM_011521289.1:c.629del	XP_011519591.1:p.Leu210Ter
XM_011521290.1:c.629del	XP_011519592.1:p.Leu210Ter
XM_005254202.3:c.728del	XP_005254259.1:p.Leu243Ter
XM_011521289.3:c.629del	XP_011519591.1:p.Leu210Ter
NM_152594.3:c.692del MANE Select	NP_689807.1:p.Leu231Ter