Canonical Allele Identifier: CA2695224179

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499014_3499017del , CM000679.2:g.3499014_3499017del	GRCh38
NC_000017.10:g.3402308_3402311del , CM000679.1:g.3402308_3402311del	GRCh37
NC_000017.9:g.3349058_3349061del	NCBI36
NG_008399.1:g.29905_29908del
NG_008399.2:g.30369_30372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.868_871del (ASPA) MANE Select	ENSP00000263080.2:p.Glu290ArgfsTer11
ENST00000263080.2:c.868_871del (ASPA)	ENSP00000263080.2:p.Glu290ArgfsTer11
ENST00000456349.6:c.868_871del (ASPA)	ENSP00000409976.2:p.Glu290ArgfsTer11
ENST00000541913.5:c.-74+14395_-74+14398del (SPATA22)	ENSP00000441920.1:n.-74+14395_-74+14398del
ENST00000570318.1:c.-74+14594_-74+14597del (SPATA22)	ENSP00000459147.1:n.-74+14594_-74+14597del
NM_000049.2:c.868_871del (ASPA)	NP_000040.1:p.Glu290ArgfsTer11
NM_001128085.1:c.868_871del (ASPA)	NP_001121557.1:p.Glu290ArgfsTer11
XM_005256829.1:c.-74+14395_-74+14398del (SPATA22)	XP_005256886.1:n.-74+14395_-74+14398del
XM_005256830.1:c.-74+14395_-74+14398del (SPATA22)	XP_005256887.1:n.-74+14395_-74+14398del
XM_006721527.2:c.868_871del (ASPA)	XP_006721590.1:p.Glu290ArgfsTer11
NM_001321336.1:c.-74+14395_-74+14398del (SPATA22)	NP_001308265.1:n.-74+14395_-74+14398del
NM_001321337.1:c.-74+14395_-74+14398del (SPATA22)	NP_001308266.1:n.-74+14395_-74+14398del
XM_017024661.1:c.868_871del (ASPA)	XP_016880150.1:p.Glu290ArgfsTer11
XM_024450764.1:c.868_871del (ASPA)	XP_024306532.1:p.Glu290ArgfsTer11
XR_934026.2:n.1135_1138del (ASPA)
NM_000049.3:c.868_871del (ASPA)	NP_000040.1:p.Glu290ArgfsTer11
NM_000049.4:c.868_871del (ASPA) MANE Select	NP_000040.1:p.Glu290ArgfsTer11
NM_001321336.2:c.-74+14395_-74+14398del (SPATA22)	NP_001308265.1:n.-74+14395_-74+14398del
NM_001321337.2:c.-74+14395_-74+14398del (SPATA22)	NP_001308266.1:n.-74+14395_-74+14398del