Canonical Allele Identifier: CA10646896
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 315744
ClinVar RCV Id: RCV000326751
dbSNP Id: rs147547509
gnomAD v2: 15-38644442-G-GATAT
gnomAD v3: 15-38352241-G-GATAT
gnomAD v4: 15-38352241-G-GATAT
MyVariant Identifiers: chr15:g.38644457_38644460dupATAT (hg19) chr15:g.38644444_38644445insATAT (hg19) chr15:g.38644442_38644443insATAT (hg19) chr15:g.38352256_38352259dupATAT (hg38) chr15:g.38352243_38352244insATAT (hg38) chr15:g.38352241_38352242insATAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38352256_38352259dup , CM000677.2:g.38352256_38352259dup GRCh38
NC_000015.9:g.38644457_38644460dup , CM000677.1:g.38644457_38644460dup GRCh37
NC_000015.8:g.36431749_36431752dup NCBI36
NG_008980.1:g.104406_104409dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.*592_*595dup MANE Select ENSP00000299084.4:n.*592_*595dup
ENST00000299084.8:c.*592_*595dup ENSP00000299084.4:n.*592_*595dup
NM_152594.2:c.*592_*595dup NP_689807.1:n.*592_*595dup
XM_005254202.2:c.*592_*595dup XP_005254259.1:n.*592_*595dup
XM_005254203.3:c.*592_*595dup XP_005254260.1:n.*592_*595dup
XM_011521288.1:c.*592_*595dup XP_011519590.1:n.*592_*595dup
XM_011521289.1:c.*592_*595dup XP_011519591.1:n.*592_*595dup
XM_011521290.1:c.*592_*595dup XP_011519592.1:n.*592_*595dup
XM_005254202.3:c.*592_*595dup XP_005254259.1:n.*592_*595dup
XM_011521289.3:c.*592_*595dup XP_011519591.1:n.*592_*595dup
NM_152594.3:c.*592_*595dup MANE Select NP_689807.1:n.*592_*595dup
Search 100 bp 5'
Search 100 bp 3'