Canonical Allele Identifier: CA2627716211

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351350-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351352del , CM000677.2:g.38351352del	GRCh38
NC_000015.9:g.38643553del , CM000677.1:g.38643553del	GRCh37
NC_000015.8:g.36430845del	NCBI36
NG_008980.1:g.103502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1023del MANE Select	ENSP00000299084.4:p.Arg341SerfsTer?
ENST00000299084.8:c.1023del	ENSP00000299084.4:p.Arg341SerfsTer?
NM_152594.2:c.1023del	NP_689807.1:p.Arg341SerfsTer?
XM_005254202.2:c.1059del	XP_005254259.1:p.Arg353SerfsTer?
XM_005254203.3:c.801del	XP_005254260.1:p.Arg267SerfsTer?
XM_011521288.1:c.960del	XP_011519590.1:p.Arg320SerfsTer?
XM_011521289.1:c.960del	XP_011519591.1:p.Arg320SerfsTer?
XM_011521290.1:c.960del	XP_011519592.1:p.Arg320SerfsTer?
XM_005254202.3:c.1059del	XP_005254259.1:p.Arg353SerfsTer?
XM_011521289.3:c.960del	XP_011519591.1:p.Arg320SerfsTer?
NM_152594.3:c.1023del MANE Select	NP_689807.1:p.Arg341SerfsTer?