Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3481883_3481889del , CM000679.2:g.3481883_3481889del	GRCh38
NC_000017.10:g.3385177_3385183del , CM000679.1:g.3385177_3385183del	GRCh37
NC_000017.9:g.3331927_3331933del	NCBI36
NG_008399.1:g.12774_12780del
NG_008399.2:g.13238_13244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.432+85_432+91del (ASPA) MANE Select	ENSP00000263080.2:n.432+85_432+91del
ENST00000263080.2:c.432+85_432+91del (ASPA)	ENSP00000263080.2:n.432+85_432+91del
ENST00000456349.6:c.432+85_432+91del (ASPA)	ENSP00000409976.2:n.432+85_432+91del
ENST00000541913.5:c.-73-12489_-73-12483del (SPATA22)	ENSP00000441920.1:n.-73-12489_-73-12483del
ENST00000570318.1:c.-73-12489_-73-12483del (SPATA22)	ENSP00000459147.1:n.-73-12489_-73-12483del
ENST00000571278.1:c.166+85_166+91del (ASPA)	ENSP00000461358.1:n.166+85_166+91del
NM_000049.2:c.432+85_432+91del (ASPA)	NP_000040.1:n.432+85_432+91del
NM_001128085.1:c.432+85_432+91del (ASPA)	NP_001121557.1:n.432+85_432+91del
XM_005256829.1:c.-73-12489_-73-12483del (SPATA22)	XP_005256886.1:n.-73-12489_-73-12483del
XM_005256830.1:c.-73-12489_-73-12483del (SPATA22)	XP_005256887.1:n.-73-12489_-73-12483del
XM_006721527.2:c.432+85_432+91del (ASPA)	XP_006721590.1:n.432+85_432+91del
XR_934026.1:n.607+85_607+91del (ASPA)
NM_001321336.1:c.-73-12489_-73-12483del (SPATA22)	NP_001308265.1:n.-73-12489_-73-12483del
NM_001321337.1:c.-73-12489_-73-12483del (SPATA22)	NP_001308266.1:n.-73-12489_-73-12483del
XM_017024661.1:c.432+85_432+91del (ASPA)	XP_016880150.1:n.432+85_432+91del
XM_024450764.1:c.432+85_432+91del (ASPA)	XP_024306532.1:n.432+85_432+91del
XR_934026.2:n.607+85_607+91del (ASPA)
NM_000049.3:c.432+85_432+91del (ASPA)	NP_000040.1:n.432+85_432+91del
NM_000049.4:c.432+85_432+91del (ASPA) MANE Select	NP_000040.1:n.432+85_432+91del
NM_001321336.2:c.-73-12489_-73-12483del (SPATA22)	NP_001308265.1:n.-73-12489_-73-12483del
NM_001321337.2:c.-73-12489_-73-12483del (SPATA22)	NP_001308266.1:n.-73-12489_-73-12483del