Canonical Allele Identifier: CA16041829

Gene: ASPA SPATA22

Linked Data

• ClinVar Variation Id: 371202
• ClinVar RCV Id: RCV000411691
• dbSNP Id: rs1057517085
• MyVariant Identifiers: chr17:g.3402267_3402268del (hg19) ; chr17:g.3498973_3498974del (hg38)
• PubMed: PMID:7668285

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3498973_3498974del , CM000679.2:g.3498973_3498974del	GRCh38
NC_000017.10:g.3402267_3402268del , CM000679.1:g.3402267_3402268del	GRCh37
NC_000017.9:g.3349017_3349018del	NCBI36
NG_008399.1:g.29864_29865del
NG_008399.2:g.30328_30329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.827_828del (ASPA) MANE Select	ENSP00000263080.2:p.Cys276TyrfsTer9
ENST00000263080.2:c.827_828del (ASPA)	ENSP00000263080.2:p.Cys276TyrfsTer9
ENST00000456349.6:c.827_828del (ASPA)	ENSP00000409976.2:p.Cys276TyrfsTer9
ENST00000541913.5:c.-74+14439_-74+14440del (SPATA22)	ENSP00000441920.1:n.-74+14439_-74+14440del
ENST00000570318.1:c.-74+14638_-74+14639del (SPATA22)	ENSP00000459147.1:n.-74+14638_-74+14639del
NM_000049.2:c.827_828del (ASPA)	NP_000040.1:p.Cys276TyrfsTer9
NM_001128085.1:c.827_828del (ASPA)	NP_001121557.1:p.Cys276TyrfsTer9
XM_005256829.1:c.-74+14439_-74+14440del (SPATA22)	XP_005256886.1:n.-74+14439_-74+14440del
XM_005256830.1:c.-74+14439_-74+14440del (SPATA22)	XP_005256887.1:n.-74+14439_-74+14440del
XM_006721527.2:c.827_828del (ASPA)	XP_006721590.1:p.Cys276TyrfsTer9
XR_934026.1:n.1094_1095del (ASPA)
NM_001321336.1:c.-74+14439_-74+14440del (SPATA22)	NP_001308265.1:n.-74+14439_-74+14440del
NM_001321337.1:c.-74+14439_-74+14440del (SPATA22)	NP_001308266.1:n.-74+14439_-74+14440del
XM_017024661.1:c.827_828del (ASPA)	XP_016880150.1:p.Cys276TyrfsTer9
XM_024450764.1:c.827_828del (ASPA)	XP_024306532.1:p.Cys276TyrfsTer9
XR_934026.2:n.1094_1095del (ASPA)
NM_000049.3:c.827_828del (ASPA)	NP_000040.1:p.Cys276TyrfsTer9
NM_000049.4:c.827_828del (ASPA) MANE Select	NP_000040.1:p.Cys276TyrfsTer9
NM_001321336.2:c.-74+14439_-74+14440del (SPATA22)	NP_001308265.1:n.-74+14439_-74+14440del
NM_001321337.2:c.-74+14439_-74+14440del (SPATA22)	NP_001308266.1:n.-74+14439_-74+14440del