Canonical Allele Identifier: CA2697554337

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2695762
• ClinVar RCV Id: RCV003498094

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351553del , CM000677.2:g.38351553del	GRCh38
NC_000015.9:g.38643754del , CM000677.1:g.38643754del	GRCh37
NC_000015.8:g.36431046del	NCBI36
NG_008980.1:g.103703del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1224del MANE Select	ENSP00000299084.4:p.Ala409LeufsTer15
ENST00000299084.8:c.1224del	ENSP00000299084.4:p.Ala409LeufsTer15
NM_152594.2:c.1224del	NP_689807.1:p.Ala409LeufsTer15
XM_005254202.2:c.1260del	XP_005254259.1:p.Ala421LeufsTer15
XM_005254203.3:c.1002del	XP_005254260.1:p.Ala335LeufsTer15
XM_011521288.1:c.1161del	XP_011519590.1:p.Ala388LeufsTer15
XM_011521289.1:c.1161del	XP_011519591.1:p.Ala388LeufsTer15
XM_011521290.1:c.1161del	XP_011519592.1:p.Ala388LeufsTer15
XM_005254202.3:c.1260del	XP_005254259.1:p.Ala421LeufsTer15
XM_011521289.3:c.1161del	XP_011519591.1:p.Ala388LeufsTer15
NM_152594.3:c.1224del MANE Select	NP_689807.1:p.Ala409LeufsTer15