Canonical Allele Identifier: CA16041825
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370450
ClinVar RCV Id: RCV000409139
dbSNP Id: rs1057516498

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3494365_3494366del , CM000679.2:g.3494365_3494366del GRCh38
NC_000017.10:g.3397659_3397660del , CM000679.1:g.3397659_3397660del GRCh37
NC_000017.9:g.3344409_3344410del NCBI36
NG_008399.1:g.25256_25257del

Transcript Alleles

HGVS Amino-acid change
NM_000049.2:c.650_651del (ASPA) VV NP_000040.1:p.Pro217LeufsTer4
NM_001128085.1:c.650_651del (ASPA) VV NP_001121557.1:p.Pro217LeufsTer4
XM_005256829.1:c.-74+19047_-74+19048del (SPATA22) XP_005256886.1:p.=
XM_005256830.1:c.-74+19047_-74+19048del (SPATA22) XP_005256887.1:p.=
XM_006721527.2:c.650_651del (ASPA) XP_006721590.1:p.Pro217LeufsTer4
XR_934026.1:n.825_826del (ASPA)
NM_001321336.1:c.-74+19047_-74+19048del (SPATA22) VV NP_001308265.1:p.=
NM_001321337.1:c.-74+19047_-74+19048del (SPATA22) VV NP_001308266.1:p.=
XM_017024661.1:c.650_651del (ASPA) XP_016880150.1:p.Pro217LeufsTer4
XM_024450764.1:c.650_651del (ASPA) XP_024306532.1:p.Pro217LeufsTer4
XR_934026.2:n.825_826del (ASPA)
NM_000049.3:c.650_651del (ASPA) VV
ENST00000263080.2:c.650_651del ENSP00000263080.2:p.Pro217LeufsTer4
ENST00000456349.6:c.650_651del ENSP00000409976.2:p.Pro217LeufsTer4
ENST00000541913.5:c.-74+19047_-74+19048del ENSP00000441920.1:p.=
ENST00000570318.1:c.-74+19246_-74+19247del ENSP00000459147.1:p.=