Canonical Allele Identifier: CA10607857

Gene: OR10Z1 SPTA1

Linked Data

• ClinVar Variation Id: 292931
• ClinVar RCV Id: RCV000309177 ; RCV000362831 ; RCV000401159
• dbSNP Id: rs55832242
• gnomAD v2: 1-158580921-GCACA-G
• gnomAD v3: 1-158611131-GCACA-G
• gnomAD v4: 1-158611131-GCACA-G
• COSMIC: COSN20095457 ; COSN20095458 ; COSN20095459 ; COSN20095460
• MyVariant Identifiers: chr1:g.158580922_158580925del (hg19) ; chr1:g.158611132_158611135del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.158611163_158611166del , CM000663.2:g.158611163_158611166del	GRCh38
NC_000001.10:g.158580953_158580956del , CM000663.1:g.158580953_158580956del	GRCh37
NC_000001.9:g.156847577_156847580del	NCBI36
NG_011474.1:g.80582_80585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641002.1:c.*3783_*3786del (OR10Z1) MANE Select	ENSP00000493003.1:n.*3783_*3786del
ENST00000643759.2:c.*129_*132del (SPTA1) MANE Select	ENSP00000495214.1:n.*129_*132del
ENST00000368147.8:c.*129_*132del (SPTA1)	ENSP00000357129.4:n.*129_*132del
ENST00000614909.4:c.*95_*98del (SPTA1)	ENSP00000482595.1:n.*95_*98del
NM_003126.2:c.*129_*132del (SPTA1)	NP_003117.2:n.*129_*132del
XM_011509916.1:c.*129_*132del (SPTA1)	XP_011508218.1:n.*129_*132del
XM_011509917.1:c.*129_*132del (SPTA1)	XP_011508219.1:n.*129_*132del
NM_003126.3:c.*129_*132del (SPTA1)	NP_003117.2:n.*129_*132del
XM_011509916.2:c.*129_*132del (SPTA1)	XP_011508218.1:n.*129_*132del
XM_011509917.3:c.*129_*132del (SPTA1)	XP_011508219.1:n.*129_*132del
NM_003126.4:c.*129_*132del (SPTA1) MANE Select	NP_003117.2:n.*129_*132del
NM_001004478.2:c.*3783_*3786del (OR10Z1) MANE Select	NP_001004478.1:n.*3783_*3786del