Canonical Allele Identifier: CA16041823
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Linked Data

ClinVar Variation Id: 371046
ClinVar RCV Id: RCV000410405
dbSNP Id: rs1057516962
MyVariant Identifiers: chr17:g.3384905del (hg19) chr17:g.3481611del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3481611del , CM000679.2:g.3481611del GRCh38
NC_000017.10:g.3384905del , CM000679.1:g.3384905del GRCh37
NC_000017.9:g.3331655del NCBI36
NG_008399.1:g.12502del
NG_008399.2:g.12966del

Transcript Alleles

HGVS Amino-acid change
ENST00000263080.3:c.245del (ASPA) MANE Select ENSP00000263080.2:p.Met82SerfsTer9
ENST00000263080.2:c.245del (ASPA) ENSP00000263080.2:p.Met82SerfsTer9
ENST00000456349.6:c.245del (ASPA) ENSP00000409976.2:p.Met82SerfsTer9
ENST00000541913.5:c.-73-12213del (SPATA22) ENSP00000441920.1:n.-73-12213del
ENST00000570318.1:c.-73-12213del (SPATA22) ENSP00000459147.1:n.-73-12213del
ENST00000571278.1:c.150del (ASPA) ENSP00000461358.1:p.Asn50LysfsTer?
NM_000049.2:c.245del (ASPA) NP_000040.1:p.Met82SerfsTer9
NM_001128085.1:c.245del (ASPA) NP_001121557.1:p.Met82SerfsTer9
XM_005256829.1:c.-73-12213del (SPATA22) XP_005256886.1:n.-73-12213del
XM_005256830.1:c.-73-12213del (SPATA22) XP_005256887.1:n.-73-12213del
XM_006721527.2:c.245del (ASPA) XP_006721590.1:p.Met82SerfsTer9
XR_934026.1:n.420del (ASPA)
NM_001321336.1:c.-73-12213del (SPATA22) NP_001308265.1:n.-73-12213del
NM_001321337.1:c.-73-12213del (SPATA22) NP_001308266.1:n.-73-12213del
XM_017024661.1:c.245del (ASPA) XP_016880150.1:p.Met82SerfsTer9
XM_024450764.1:c.245del (ASPA) XP_024306532.1:p.Met82SerfsTer9
XR_934026.2:n.420del (ASPA)
NM_000049.3:c.245del (ASPA) NP_000040.1:p.Met82SerfsTer9
NM_000049.4:c.245del (ASPA) MANE Select NP_000040.1:p.Met82SerfsTer9
NM_001321336.2:c.-73-12213del (SPATA22) NP_001308265.1:n.-73-12213del
NM_001321337.2:c.-73-12213del (SPATA22) NP_001308266.1:n.-73-12213del
Search 100 bp 5'
Search 100 bp 3'