Canonical Allele Identifier: CA10635897

Gene: SPRED1

Linked Data

• dbSNP Id: rs147547509
• gnomAD v2: 15-38644442-G-GATATAT
• gnomAD v3: 15-38352241-G-GATATAT
• gnomAD v4: 15-38352241-G-GATATAT
• MyVariant Identifiers: chr15:g.38644455_38644460dupATATAT (hg19) ; chr15:g.38644444_38644445insATATAT (hg19) ; chr15:g.38644442_38644443insATATAT (hg19) ; chr15:g.38352254_38352259dupATATAT (hg38) ; chr15:g.38352243_38352244insATATAT (hg38) ; chr15:g.38352241_38352242insATATAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38352254_38352259dup , CM000677.2:g.38352254_38352259dup	GRCh38
NC_000015.9:g.38644455_38644460dup , CM000677.1:g.38644455_38644460dup	GRCh37
NC_000015.8:g.36431747_36431752dup	NCBI36
NG_008980.1:g.104404_104409dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.*590_*595dup MANE Select	ENSP00000299084.4:n.*590_*595dup
ENST00000299084.8:c.*590_*595dup	ENSP00000299084.4:n.*590_*595dup
NM_152594.2:c.*590_*595dup	NP_689807.1:n.*590_*595dup
XM_005254202.2:c.*590_*595dup	XP_005254259.1:n.*590_*595dup
XM_005254203.3:c.*590_*595dup	XP_005254260.1:n.*590_*595dup
XM_011521288.1:c.*590_*595dup	XP_011519590.1:n.*590_*595dup
XM_011521289.1:c.*590_*595dup	XP_011519591.1:n.*590_*595dup
XM_011521290.1:c.*590_*595dup	XP_011519592.1:n.*590_*595dup
XM_005254202.3:c.*590_*595dup	XP_005254259.1:n.*590_*595dup
XM_011521289.3:c.*590_*595dup	XP_011519591.1:n.*590_*595dup
NM_152594.3:c.*590_*595dup MANE Select	NP_689807.1:n.*590_*595dup