Canonical Allele Identifier: CA658824654

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 561784
• ClinVar RCV Id: RCV000681186 ; RCV000818826 ; RCV001261039 ; RCV001269110

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351554_38351555delinsTT , CM000677.2:g.38351554_38351555delinsTT	GRCh38
NC_000015.9:g.38643755_38643756delinsTT , CM000677.1:g.38643755_38643756delinsTT	GRCh37
NC_000015.8:g.36431047_36431048delinsTT	NCBI36
NG_008980.1:g.103704_103705delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1225_1226delinsTT MANE Select	ENSP00000299084.4:p.Ala409Phe
ENST00000299084.8:c.1225_1226delinsTT	ENSP00000299084.4:p.Ala409Phe
NM_152594.2:c.1225_1226delinsTT	NP_689807.1:p.Ala409Phe
XM_005254202.2:c.1261_1262delinsTT	XP_005254259.1:p.Ala421Phe
XM_005254203.3:c.1003_1004delinsTT	XP_005254260.1:p.Ala335Phe
XM_011521288.1:c.1162_1163delinsTT	XP_011519590.1:p.Ala388Phe
XM_011521289.1:c.1162_1163delinsTT	XP_011519591.1:p.Ala388Phe
XM_011521290.1:c.1162_1163delinsTT	XP_011519592.1:p.Ala388Phe
XM_005254202.3:c.1261_1262delinsTT	XP_005254259.1:p.Ala421Phe
XM_011521289.3:c.1162_1163delinsTT	XP_011519591.1:p.Ala388Phe
NM_152594.3:c.1225_1226delinsTT MANE Select	NP_689807.1:p.Ala409Phe