Canonical Allele Identifier: CA2627716208

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351331-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351332del , CM000677.2:g.38351332del	GRCh38
NC_000015.9:g.38643533del , CM000677.1:g.38643533del	GRCh37
NC_000015.8:g.36430825del	NCBI36
NG_008980.1:g.103482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1003del MANE Select	ENSP00000299084.4:p.Cys335AlafsTer?
ENST00000299084.8:c.1003del	ENSP00000299084.4:p.Cys335AlafsTer?
NM_152594.2:c.1003del	NP_689807.1:p.Cys335AlafsTer?
XM_005254202.2:c.1039del	XP_005254259.1:p.Cys347AlafsTer?
XM_005254203.3:c.781del	XP_005254260.1:p.Cys261AlafsTer?
XM_011521288.1:c.940del	XP_011519590.1:p.Cys314AlafsTer?
XM_011521289.1:c.940del	XP_011519591.1:p.Cys314AlafsTer?
XM_011521290.1:c.940del	XP_011519592.1:p.Cys314AlafsTer?
XM_005254202.3:c.1039del	XP_005254259.1:p.Cys347AlafsTer?
XM_011521289.3:c.940del	XP_011519591.1:p.Cys314AlafsTer?
NM_152594.3:c.1003del MANE Select	NP_689807.1:p.Cys335AlafsTer?