Canonical Allele Identifier: CA968818059

Gene: SPRED1

Linked Data

• dbSNP Id: rs1888491447
• gnomAD v3: 15-38351626-TGTG-T
• gnomAD v4: 15-38351626-TGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351629_38351631del , CM000677.2:g.38351629_38351631del	GRCh38
NC_000015.9:g.38643830_38643832del , CM000677.1:g.38643830_38643832del	GRCh37
NC_000015.8:g.36431122_36431124del	NCBI36
NG_008980.1:g.103779_103781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1300_1302del MANE Select	ENSP00000299084.4:p.Gly434del
ENST00000299084.8:c.1300_1302del	ENSP00000299084.4:p.Gly434del
NM_152594.2:c.1300_1302del	NP_689807.1:p.Gly434del
XM_005254202.2:c.1336_1338del	XP_005254259.1:p.Gly446del
XM_005254203.3:c.1078_1080del	XP_005254260.1:p.Gly360del
XM_011521288.1:c.1237_1239del	XP_011519590.1:p.Gly413del
XM_011521289.1:c.1237_1239del	XP_011519591.1:p.Gly413del
XM_011521290.1:c.1237_1239del	XP_011519592.1:p.Gly413del
XM_005254202.3:c.1336_1338del	XP_005254259.1:p.Gly446del
XM_011521289.3:c.1237_1239del	XP_011519591.1:p.Gly413del
NM_152594.3:c.1300_1302del MANE Select	NP_689807.1:p.Gly434del