Canonical Allele Identifier: CA2695197208

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2630858
• ClinVar RCV Id: RCV003404232

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38349465_38349475del , CM000677.2:g.38349465_38349475del	GRCh38
NC_000015.9:g.38641666_38641676del , CM000677.1:g.38641666_38641676del	GRCh37
NC_000015.8:g.36428958_36428968del	NCBI36
NG_008980.1:g.101615_101625del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.626_636del MANE Select	ENSP00000299084.4:p.Met209ThrfsTer16
ENST00000299084.8:c.626_636del	ENSP00000299084.4:p.Met209ThrfsTer16
NM_152594.2:c.626_636del	NP_689807.1:p.Met209ThrfsTer16
XM_005254202.2:c.662_672del	XP_005254259.1:p.Met221ThrfsTer16
XM_005254203.3:c.404_414del	XP_005254260.1:p.Met135ThrfsTer16
XM_011521288.1:c.563_573del	XP_011519590.1:p.Met188ThrfsTer16
XM_011521289.1:c.563_573del	XP_011519591.1:p.Met188ThrfsTer16
XM_011521290.1:c.563_573del	XP_011519592.1:p.Met188ThrfsTer16
XM_005254202.3:c.662_672del	XP_005254259.1:p.Met221ThrfsTer16
XM_011521289.3:c.563_573del	XP_011519591.1:p.Met188ThrfsTer16
NM_152594.3:c.626_636del MANE Select	NP_689807.1:p.Met209ThrfsTer16