Canonical Allele Identifier: CA16041832
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Linked Data

ClinVar Variation Id: 371424
ClinVar RCV Id: RCV000410855
dbSNP Id: rs1057517260

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3499070del , CM000679.2:g.3499070del GRCh38
NC_000017.10:g.3402364del , CM000679.1:g.3402364del GRCh37
NC_000017.9:g.3349114del NCBI36
NG_008399.1:g.29961del
NG_008399.2:g.30425del

Transcript Alleles

HGVS Amino-acid change
ENST00000263080.3:c.924del (ASPA) MANE Select ENSP00000263080.2:p.Arg309AlafsTer22
ENST00000263080.2:c.924del (ASPA) ENSP00000263080.2:p.Arg309AlafsTer22
ENST00000456349.6:c.924del (ASPA) ENSP00000409976.2:p.Arg309AlafsTer?
ENST00000541913.5:c.-74+14343del (SPATA22) ENSP00000441920.1:n.-74+14343del
ENST00000570318.1:c.-74+14542del (SPATA22) ENSP00000459147.1:n.-74+14542del
NM_000049.2:c.924del (ASPA) NP_000040.1:p.Arg309AlafsTer22
NM_001128085.1:c.924del (ASPA) NP_001121557.1:p.Arg309AlafsTer22
XM_005256829.1:c.-74+14343del (SPATA22) XP_005256886.1:n.-74+14343del
XM_005256830.1:c.-74+14343del (SPATA22) XP_005256887.1:n.-74+14343del
XM_006721527.2:c.924del (ASPA) XP_006721590.1:p.Arg309AlafsTer22
NM_001321336.1:c.-74+14343del (SPATA22) NP_001308265.1:n.-74+14343del
NM_001321337.1:c.-74+14343del (SPATA22) NP_001308266.1:n.-74+14343del
XM_017024661.1:c.924del (ASPA) XP_016880150.1:p.Arg309AlafsTer22
XM_024450764.1:c.924del (ASPA) XP_024306532.1:p.Arg309AlafsTer22
XR_934026.2:n.1191del (ASPA)
NM_000049.3:c.924del (ASPA) NP_000040.1:p.Arg309AlafsTer22
NM_000049.4:c.924del (ASPA) MANE Select NP_000040.1:p.Arg309AlafsTer22
NM_001321336.2:c.-74+14343del (SPATA22) NP_001308265.1:n.-74+14343del
NM_001321337.2:c.-74+14343del (SPATA22) NP_001308266.1:n.-74+14343del