Canonical Allele Identifier: CA658761235

Gene: SPRED1

Linked Data

• gnomAD v4: 15-38351159-A-AT
• PubMed: PMID:22753041

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351161dup , CM000677.2:g.38351161dup	GRCh38
NC_000015.9:g.38643362dup , CM000677.1:g.38643362dup	GRCh37
NC_000015.8:g.36430654dup	NCBI36
NG_008980.1:g.103311dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.832dup MANE Select	ENSP00000299084.4:p.Ser278PhefsTer7
ENST00000299084.8:c.832dup	ENSP00000299084.4:p.Ser278PhefsTer7
NM_152594.2:c.832dup	NP_689807.1:p.Ser278PhefsTer7
XM_005254202.2:c.868dup	XP_005254259.1:p.Ser290PhefsTer7
XM_005254203.3:c.610dup	XP_005254260.1:p.Ser204PhefsTer7
XM_011521288.1:c.769dup	XP_011519590.1:p.Ser257PhefsTer7
XM_011521289.1:c.769dup	XP_011519591.1:p.Ser257PhefsTer7
XM_011521290.1:c.769dup	XP_011519592.1:p.Ser257PhefsTer7
XM_005254202.3:c.868dup	XP_005254259.1:p.Ser290PhefsTer7
XM_011521289.3:c.769dup	XP_011519591.1:p.Ser257PhefsTer7
NM_152594.3:c.832dup MANE Select	NP_689807.1:p.Ser278PhefsTer7