Canonical Allele Identifier: CA274320

Gene: ASPA SPATA22

Linked Data

• ClinVar Variation Id: 189049
• ClinVar RCV Id: RCV000169442 ; RCV002265655
• dbSNP Id: rs767666474
• ExAC: 17:3379484 AT / A
• gnomAD v2: 17-3379484-AT-A
• MyVariant Identifiers: chr17:g.3379485del (hg19) ; chr17:g.3476191del (hg38)
• PubMed: PMID:8659549

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3476191del , CM000679.2:g.3476191del	GRCh38
NC_000017.10:g.3379485del , CM000679.1:g.3379485del	GRCh37
NC_000017.9:g.3326235del	NCBI36
NG_008399.1:g.7082del
NG_008399.2:g.7546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.32del (ASPA) MANE Select	ENSP00000263080.2:p.Ile11AsnfsTer15
ENST00000263080.2:c.32del (ASPA)	ENSP00000263080.2:p.Ile11AsnfsTer15
ENST00000456349.6:c.32del (ASPA)	ENSP00000409976.2:p.Ile11AsnfsTer15
ENST00000541913.5:c.-73-6793del (SPATA22)	ENSP00000441920.1:n.-73-6793del
ENST00000570318.1:c.-73-6793del (SPATA22)	ENSP00000459147.1:n.-73-6793del
ENST00000571278.1:c.32del (ASPA)	ENSP00000461358.1:p.Ile11AsnfsTer15
ENST00000577034.1:c.32del (ASPA)	ENSP00000458324.1:p.Ile11AsnfsTer15
NM_000049.2:c.32del (ASPA)	NP_000040.1:p.Ile11AsnfsTer15
NM_001128085.1:c.32del (ASPA)	NP_001121557.1:p.Ile11AsnfsTer15
XM_005256829.1:c.-73-6793del (SPATA22)	XP_005256886.1:n.-73-6793del
XM_005256830.1:c.-73-6793del (SPATA22)	XP_005256887.1:n.-73-6793del
XM_006721527.2:c.32del (ASPA)	XP_006721590.1:p.Ile11AsnfsTer15
XR_934026.1:n.207del (ASPA)
NM_001321336.1:c.-73-6793del (SPATA22)	NP_001308265.1:n.-73-6793del
NM_001321337.1:c.-73-6793del (SPATA22)	NP_001308266.1:n.-73-6793del
XM_017024661.1:c.32del (ASPA)	XP_016880150.1:p.Ile11AsnfsTer15
XM_024450764.1:c.32del (ASPA)	XP_024306532.1:p.Ile11AsnfsTer15
XR_934026.2:n.207del (ASPA)
NM_000049.3:c.32del (ASPA)	NP_000040.1:p.Ile11AsnfsTer15
NM_000049.4:c.32del (ASPA) MANE Select	NP_000040.1:p.Ile11AsnfsTer15
NM_001321336.2:c.-73-6793del (SPATA22)	NP_001308265.1:n.-73-6793del
NM_001321337.2:c.-73-6793del (SPATA22)	NP_001308266.1:n.-73-6793del