Canonical Allele Identifier: CA10608331
Gene: OR10Z1 HGNC NCBI
SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 292927
ClinVar RCV Id: RCV000286299 RCV000321848 RCV000376518
dbSNP Id: rs55832242
gnomAD v2: 1-158580921-G-GCACACA
gnomAD v3: 1-158611131-G-GCACACA
gnomAD v4: 1-158611131-G-GCACACA
MyVariant Identifiers: chr1:g.158580922_158580927dupCACACA (hg19) chr1:g.158580925_158580926insCACACA (hg19) chr1:g.158580921_158580922insCACACA (hg19) chr1:g.158611132_158611137dupCACACA (hg38) chr1:g.158611135_158611136insCACACA (hg38) chr1:g.158611131_158611132insCACACA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158611161_158611166dup , CM000663.2:g.158611161_158611166dup GRCh38
NC_000001.10:g.158580951_158580956dup , CM000663.1:g.158580951_158580956dup GRCh37
NC_000001.9:g.156847575_156847580dup NCBI36
NG_011474.1:g.80580_80585dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000641002.1:c.*3781_*3786dup (OR10Z1) MANE Select ENSP00000493003.1:n.*3781_*3786dup
ENST00000643759.2:c.*127_*132dup (SPTA1) MANE Select ENSP00000495214.1:n.*127_*132dup
ENST00000368147.8:c.*127_*132dup (SPTA1) ENSP00000357129.4:n.*127_*132dup
ENST00000614909.4:c.*93_*98dup (SPTA1) ENSP00000482595.1:n.*93_*98dup
NM_003126.2:c.*127_*132dup (SPTA1) NP_003117.2:n.*127_*132dup
XM_011509916.1:c.*127_*132dup (SPTA1) XP_011508218.1:n.*127_*132dup
XM_011509917.1:c.*127_*132dup (SPTA1) XP_011508219.1:n.*127_*132dup
NM_003126.3:c.*127_*132dup (SPTA1) NP_003117.2:n.*127_*132dup
XM_011509916.2:c.*127_*132dup (SPTA1) XP_011508218.1:n.*127_*132dup
XM_011509917.3:c.*127_*132dup (SPTA1) XP_011508219.1:n.*127_*132dup
NM_003126.4:c.*127_*132dup (SPTA1) MANE Select NP_003117.2:n.*127_*132dup
NM_001004478.2:c.*3781_*3786dup (OR10Z1) MANE Select NP_001004478.1:n.*3781_*3786dup
Search 100 bp 5'
Search 100 bp 3'