Canonical Allele Identifier: CA2573150673

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1401830
• ClinVar RCV Id: RCV001913158
• dbSNP Id: rs2141016553

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351461_38351468del , CM000677.2:g.38351461_38351468del	GRCh38
NC_000015.9:g.38643662_38643669del , CM000677.1:g.38643662_38643669del	GRCh37
NC_000015.8:g.36430954_36430961del	NCBI36
NG_008980.1:g.103611_103618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1132_1139del MANE Select	ENSP00000299084.4:p.His378ValfsTer9
ENST00000299084.8:c.1132_1139del	ENSP00000299084.4:p.His378ValfsTer9
NM_152594.2:c.1132_1139del	NP_689807.1:p.His378ValfsTer9
XM_005254202.2:c.1168_1175del	XP_005254259.1:p.His390ValfsTer9
XM_005254203.3:c.910_917del	XP_005254260.1:p.His304ValfsTer9
XM_011521288.1:c.1069_1076del	XP_011519590.1:p.His357ValfsTer9
XM_011521289.1:c.1069_1076del	XP_011519591.1:p.His357ValfsTer9
XM_011521290.1:c.1069_1076del	XP_011519592.1:p.His357ValfsTer9
XM_005254202.3:c.1168_1175del	XP_005254259.1:p.His390ValfsTer9
XM_011521289.3:c.1069_1076del	XP_011519591.1:p.His357ValfsTer9
NM_152594.3:c.1132_1139del MANE Select	NP_689807.1:p.His378ValfsTer9