Canonical Allele Identifier: CA2695224132

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3494351_3494460del , CM000679.2:g.3494351_3494460del	GRCh38
NC_000017.10:g.3397645_3397754del , CM000679.1:g.3397645_3397754del	GRCh37
NC_000017.9:g.3344395_3344504del	NCBI36
NG_008399.1:g.25242_25351del
NG_008399.2:g.25706_25815del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.636_744+1del (ASPA)
ENST00000263080.2:c.636_744+1del (ASPA)
ENST00000456349.6:c.636_744+1del (ASPA)
ENST00000541913.5:c.-74+18955_-74+19064del (SPATA22)	ENSP00000441920.1:n.-74+18955_-74+19064de...
ENST00000570318.1:c.-74+19154_-74+19263del (SPATA22)	ENSP00000459147.1:n.-74+19154_-74+19263de...
NM_000049.2:c.636_744+1del (ASPA)
NM_001128085.1:c.636_744+1del (ASPA)
XM_005256829.1:c.-74+18955_-74+19064del (SPATA22)	XP_005256886.1:n.-74+18955_-74+19064del
XM_005256830.1:c.-74+18955_-74+19064del (SPATA22)	XP_005256887.1:n.-74+18955_-74+19064del
XM_006721527.2:c.636_744+1del (ASPA)
XR_934026.1:n.811_919+1del (ASPA)
NM_001321336.1:c.-74+18955_-74+19064del (SPATA22)	NP_001308265.1:n.-74+18955_-74+19064del
NM_001321337.1:c.-74+18955_-74+19064del (SPATA22)	NP_001308266.1:n.-74+18955_-74+19064del
XM_017024661.1:c.636_744+1del (ASPA)
XM_024450764.1:c.636_744+1del (ASPA)
XR_934026.2:n.811_919+1del (ASPA)
NM_000049.3:c.636_744+1del (ASPA)
NM_000049.4:c.636_744+1del (ASPA)
NM_001321336.2:c.-74+18955_-74+19064del (SPATA22)	NP_001308265.1:n.-74+18955_-74+19064del
NM_001321337.2:c.-74+18955_-74+19064del (SPATA22)	NP_001308266.1:n.-74+18955_-74+19064del