Canonical Allele Identifier: CA2697554338

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 2742105
• ClinVar RCV Id: RCV003497588

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351600_38351601del , CM000677.2:g.38351600_38351601del	GRCh38
NC_000015.9:g.38643801_38643802del , CM000677.1:g.38643801_38643802del	GRCh37
NC_000015.8:g.36431093_36431094del	NCBI36
NG_008980.1:g.103750_103751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1271_1272del MANE Select	ENSP00000299084.4:p.Arg424AsnfsTer7
ENST00000299084.8:c.1271_1272del	ENSP00000299084.4:p.Arg424AsnfsTer7
NM_152594.2:c.1271_1272del	NP_689807.1:p.Arg424AsnfsTer7
XM_005254202.2:c.1307_1308del	XP_005254259.1:p.Arg436AsnfsTer7
XM_005254203.3:c.1049_1050del	XP_005254260.1:p.Arg350AsnfsTer7
XM_011521288.1:c.1208_1209del	XP_011519590.1:p.Arg403AsnfsTer7
XM_011521289.1:c.1208_1209del	XP_011519591.1:p.Arg403AsnfsTer7
XM_011521290.1:c.1208_1209del	XP_011519592.1:p.Arg403AsnfsTer7
XM_005254202.3:c.1307_1308del	XP_005254259.1:p.Arg436AsnfsTer7
XM_011521289.3:c.1208_1209del	XP_011519591.1:p.Arg403AsnfsTer7
NM_152594.3:c.1271_1272del MANE Select	NP_689807.1:p.Arg424AsnfsTer7