Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3481537_3481539del , CM000679.2:g.3481537_3481539del	GRCh38
NC_000017.10:g.3384831_3384833del , CM000679.1:g.3384831_3384833del	GRCh37
NC_000017.9:g.3331581_3331583del	NCBI36
NG_008399.1:g.12428_12430del
NG_008399.2:g.12892_12894del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.237-66_237-64del (ASPA) MANE Select	ENSP00000263080.2:n.237-66_237-64del
ENST00000263080.2:c.237-66_237-64del (ASPA)	ENSP00000263080.2:n.237-66_237-64del
ENST00000456349.6:c.237-66_237-64del (ASPA)	ENSP00000409976.2:n.237-66_237-64del
ENST00000541913.5:c.-73-12139_-73-12137del (SPATA22)	ENSP00000441920.1:n.-73-12139_-73-12137del
ENST00000570318.1:c.-73-12139_-73-12137del (SPATA22)	ENSP00000459147.1:n.-73-12139_-73-12137del
ENST00000571278.1:c.142-66_142-64del (ASPA)	ENSP00000461358.1:n.142-66_142-64del
NM_000049.2:c.237-66_237-64del (ASPA)	NP_000040.1:n.237-66_237-64del
NM_001128085.1:c.237-66_237-64del (ASPA)	NP_001121557.1:n.237-66_237-64del
XM_005256829.1:c.-73-12139_-73-12137del (SPATA22)	XP_005256886.1:n.-73-12139_-73-12137del
XM_005256830.1:c.-73-12139_-73-12137del (SPATA22)	XP_005256887.1:n.-73-12139_-73-12137del
XM_006721527.2:c.237-66_237-64del (ASPA)	XP_006721590.1:n.237-66_237-64del
XR_934026.1:n.412-66_412-64del (ASPA)
NM_001321336.1:c.-73-12139_-73-12137del (SPATA22)	NP_001308265.1:n.-73-12139_-73-12137del
NM_001321337.1:c.-73-12139_-73-12137del (SPATA22)	NP_001308266.1:n.-73-12139_-73-12137del
XM_017024661.1:c.237-66_237-64del (ASPA)	XP_016880150.1:n.237-66_237-64del
XM_024450764.1:c.237-66_237-64del (ASPA)	XP_024306532.1:n.237-66_237-64del
XR_934026.2:n.412-66_412-64del (ASPA)
NM_000049.3:c.237-66_237-64del (ASPA)	NP_000040.1:n.237-66_237-64del
NM_000049.4:c.237-66_237-64del (ASPA) MANE Select	NP_000040.1:n.237-66_237-64del
NM_001321336.2:c.-73-12139_-73-12137del (SPATA22)	NP_001308265.1:n.-73-12139_-73-12137del
NM_001321337.2:c.-73-12139_-73-12137del (SPATA22)	NP_001308266.1:n.-73-12139_-73-12137del