Canonical Allele Identifier: CA1139663833
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 917813
ClinVar RCV Id: RCV001175072
dbSNP Id: rs1888490960
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351610_38351668dup , CM000677.2:g.38351610_38351668dup GRCh38
NC_000015.9:g.38643811_38643869dup , CM000677.1:g.38643811_38643869dup GRCh37
NC_000015.8:g.36431103_36431161dup NCBI36
NG_008980.1:g.103760_103818dup

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.1281_*4dup MANE Select ENSP00000299084.4:n.1281_*4dup
ENST00000299084.8:c.1281_*4dup ENSP00000299084.4:n.1281_*4dup
NM_152594.2:c.1281_*4dup NP_689807.1:n.1281_*4dup
XM_005254202.2:c.1317_*4dup XP_005254259.1:n.1317_*4dup
XM_005254203.3:c.1059_*4dup XP_005254260.1:n.1059_*4dup
XM_011521288.1:c.1218_*4dup XP_011519590.1:n.1218_*4dup
XM_011521289.1:c.1218_*4dup XP_011519591.1:n.1218_*4dup
XM_011521290.1:c.1218_*4dup XP_011519592.1:n.1218_*4dup
XM_005254202.3:c.1317_*4dup XP_005254259.1:n.1317_*4dup
XM_011521289.3:c.1218_*4dup XP_011519591.1:n.1218_*4dup
NM_152594.3:c.1281_*4dup MANE Select NP_689807.1:n.1281_*4dup
Search 100 bp 5'
Search 100 bp 3'