Canonical Allele Identifier: CA617506067

Gene: SPRED1

Linked Data

• dbSNP Id: rs147547509
• gnomAD v2: 15-38644442-G-GATATATATATAT
• gnomAD v3: 15-38352241-G-GATATATATATAT
• gnomAD v4: 15-38352241-G-GATATATATATAT
• MyVariant Identifiers: chr15:g.38644444_38644445insATATATATATAT (hg19) ; chr15:g.38644442_38644443insATATATATATAT (hg19) ; chr15:g.38352243_38352244insATATATATATAT (hg38) ; chr15:g.38352241_38352242insATATATATATAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38352248_38352259dup , CM000677.2:g.38352248_38352259dup	GRCh38
NC_000015.9:g.38644449_38644460dup , CM000677.1:g.38644449_38644460dup	GRCh37
NC_000015.8:g.36431741_36431752dup	NCBI36
NG_008980.1:g.104398_104409dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.*584_*595dup MANE Select	ENSP00000299084.4:n.*584_*595dup
ENST00000299084.8:c.*584_*595dup	ENSP00000299084.4:n.*584_*595dup
NM_152594.2:c.*584_*595dup	NP_689807.1:n.*584_*595dup
XM_005254202.2:c.*584_*595dup	XP_005254259.1:n.*584_*595dup
XM_005254203.3:c.*584_*595dup	XP_005254260.1:n.*584_*595dup
XM_011521288.1:c.*584_*595dup	XP_011519590.1:n.*584_*595dup
XM_011521289.1:c.*584_*595dup	XP_011519591.1:n.*584_*595dup
XM_011521290.1:c.*584_*595dup	XP_011519592.1:n.*584_*595dup
XM_005254202.3:c.*584_*595dup	XP_005254259.1:n.*584_*595dup
XM_011521289.3:c.*584_*595dup	XP_011519591.1:n.*584_*595dup
NM_152594.3:c.*584_*595dup MANE Select	NP_689807.1:n.*584_*595dup