Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499400_3499405delinsAAAGTT , CM000679.2:g.3499400_3499405delinsAAAGTT	GRCh38
NC_000017.10:g.3402694_3402699delinsAAAGTT , CM000679.1:g.3402694_3402699delinsAAAGTT	GRCh37
NC_000017.9:g.3349444_3349449delinsAAAGTT	NCBI36
NG_008399.1:g.30291_30296delinsAAAGTT
NG_008399.2:g.30755_30760delinsAAAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.312_317delinsAAAGTT (ASPA) MANE Select	ENSP00000263080.2:n.312_317delinsAAAGTT
ENST00000263080.2:c.312_317delinsAAAGTT (ASPA)	ENSP00000263080.2:n.312_317delinsAAAGTT
ENST00000541913.5:c.-74+14007_-74+14012delinsAACTTT (SPATA22)	ENSP00000441920.1:n.-74+14007_-74+14012delinsAACTTT
ENST00000570318.1:c.-74+14206_-74+14211delinsAACTTT (SPATA22)	ENSP00000459147.1:n.-74+14206_-74+14211delinsAACTTT
NM_000049.2:c.312_317delinsAAAGTT (ASPA)	NP_000040.1:n.312_317delinsAAAGTT
NM_001128085.1:c.312_317delinsAAAGTT (ASPA)	NP_001121557.1:n.312_317delinsAAAGTT
XM_005256829.1:c.-74+14007_-74+14012delinsAACTTT (SPATA22)	XP_005256886.1:n.-74+14007_-74+14012delinsAACTTT
XM_005256830.1:c.-74+14007_-74+14012delinsAACTTT (SPATA22)	XP_005256887.1:n.-74+14007_-74+14012delinsAACTTT
XM_006721527.2:c.312_317delinsAAAGTT (ASPA)	XP_006721590.1:n.312_317delinsAAAGTT
NM_001321336.1:c.-74+14007_-74+14012delinsAACTTT (SPATA22)	NP_001308265.1:n.-74+14007_-74+14012delinsAACTTT
NM_001321337.1:c.-74+14007_-74+14012delinsAACTTT (SPATA22)	NP_001308266.1:n.-74+14007_-74+14012delinsAACTTT
XM_017024661.1:c.312_317delinsAAAGTT (ASPA)	XP_016880150.1:n.312_317delinsAAAGTT
XM_024450764.1:c.312_317delinsAAAGTT (ASPA)	XP_024306532.1:n.312_317delinsAAAGTT
NM_000049.3:c.312_317delinsAAAGTT (ASPA)	NP_000040.1:n.312_317delinsAAAGTT
NM_000049.4:c.312_317delinsAAAGTT (ASPA) MANE Select	NP_000040.1:n.312_317delinsAAAGTT
NM_001321336.2:c.-74+14007_-74+14012delinsAACTTT (SPATA22)	NP_001308265.1:n.-74+14007_-74+14012delinsAACTTT
NM_001321337.2:c.-74+14007_-74+14012delinsAACTTT (SPATA22)	NP_001308266.1:n.-74+14007_-74+14012delinsAACTTT