Canonical Allele Identifier: CA2243897662

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499447_3499453delinsCTGTACT , CM000679.2:g.3499447_3499453delinsCTGTACT	GRCh38
NC_000017.10:g.3402741_3402747delinsCTGTACT , CM000679.1:g.3402741_3402747delinsCTGTACT	GRCh37
NC_000017.9:g.3349491_3349497delinsCTGTACT	NCBI36
NG_008399.1:g.30338_30344delinsCTGTACT
NG_008399.2:g.30802_30808delinsCTGTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*359_*365delinsCTGTACT (ASPA) MANE Select	ENSP00000263080.2:n.*359_*365delinsCTGTACT
ENST00000263080.2:c.*359_*365delinsCTGTACT (ASPA)	ENSP00000263080.2:n.*359_*365delinsCTGTACT
ENST00000541913.5:c.-74+13959_-74+13965delinsAGTACAG (SPATA22)	ENSP00000441920.1:n.-74+13959_-74+13965delinsAGTACAG
ENST00000570318.1:c.-74+14158_-74+14164delinsAGTACAG (SPATA22)	ENSP00000459147.1:n.-74+14158_-74+14164delinsAGTACAG
XM_005256829.1:c.-74+13959_-74+13965delinsAGTACAG (SPATA22)	XP_005256886.1:n.-74+13959_-74+13965delinsAGTACAG
XM_005256830.1:c.-74+13959_-74+13965delinsAGTACAG (SPATA22)	XP_005256887.1:n.-74+13959_-74+13965delinsAGTACAG
NM_001321336.1:c.-74+13959_-74+13965delinsAGTACAG (SPATA22)	NP_001308265.1:n.-74+13959_-74+13965delinsAGTACAG
NM_001321337.1:c.-74+13959_-74+13965delinsAGTACAG (SPATA22)	NP_001308266.1:n.-74+13959_-74+13965delinsAGTACAG
XM_017024661.1:c.*359_*365delinsCTGTACT (ASPA)	XP_016880150.1:n.*359_*365delinsCTGTACT
XM_024450764.1:c.*359_*365delinsCTGTACT (ASPA)	XP_024306532.1:n.*359_*365delinsCTGTACT
NM_000049.3:c.*359_*365delinsCTGTACT (ASPA)	NP_000040.1:n.*359_*365delinsCTGTACT
NM_000049.4:c.*359_*365delinsCTGTACT (ASPA) MANE Select	NP_000040.1:n.*359_*365delinsCTGTACT
NM_001321336.2:c.-74+13959_-74+13965delinsAGTACAG (SPATA22)	NP_001308265.1:n.-74+13959_-74+13965delinsAGTACAG
NM_001321337.2:c.-74+13959_-74+13965delinsAGTACAG (SPATA22)	NP_001308266.1:n.-74+13959_-74+13965delinsAGTACAG