Canonical Allele Identifier: CA7470211

Gene: SPRED1

Linked Data

• dbSNP Id: rs749692794
• ExAC: 15:38643492 AGAAGTC / A
• gnomAD v2: 15-38643492-AGAAGTC-A
• gnomAD v4: 15-38351291-AGAAGTC-A
• MyVariant Identifiers: chr15:g.38643493_38643498del (hg19) ; chr15:g.38351292_38351297del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351292_38351297del , CM000677.2:g.38351292_38351297del	GRCh38
NC_000015.9:g.38643493_38643498del , CM000677.1:g.38643493_38643498del	GRCh37
NC_000015.8:g.36430785_36430790del	NCBI36
NG_008980.1:g.103442_103447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.963_968del MANE Select	ENSP00000299084.4:p.Lys322_Ser323del
ENST00000299084.8:c.963_968del	ENSP00000299084.4:p.Lys322_Ser323del
NM_152594.2:c.963_968del	NP_689807.1:p.Lys322_Ser323del
XM_005254202.2:c.999_1004del	XP_005254259.1:p.Lys334_Ser335del
XM_005254203.3:c.741_746del	XP_005254260.1:p.Lys248_Ser249del
XM_011521288.1:c.900_905del	XP_011519590.1:p.Lys301_Ser302del
XM_011521289.1:c.900_905del	XP_011519591.1:p.Lys301_Ser302del
XM_011521290.1:c.900_905del	XP_011519592.1:p.Lys301_Ser302del
XM_005254202.3:c.999_1004del	XP_005254259.1:p.Lys334_Ser335del
XM_011521289.3:c.900_905del	XP_011519591.1:p.Lys301_Ser302del
NM_152594.3:c.963_968del MANE Select	NP_689807.1:p.Lys322_Ser323del