Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499351_3499355delinsTAATA , CM000679.2:g.3499351_3499355delinsTAATA	GRCh38
NC_000017.10:g.3402645_3402649delinsTAATA , CM000679.1:g.3402645_3402649delinsTAATA	GRCh37
NC_000017.9:g.3349395_3349399delinsTAATA	NCBI36
NG_008399.1:g.30242_30246delinsTAATA
NG_008399.2:g.30706_30710delinsTAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.263_267delinsTAATA (ASPA) MANE Select	ENSP00000263080.2:n.263_267delinsTAATA
ENST00000263080.2:c.263_267delinsTAATA (ASPA)	ENSP00000263080.2:n.263_267delinsTAATA
ENST00000541913.5:c.-74+14057_-74+14061delinsTATTA (SPATA22)	ENSP00000441920.1:n.-74+14057_-74+14061delinsTATTA
ENST00000570318.1:c.-74+14256_-74+14260delinsTATTA (SPATA22)	ENSP00000459147.1:n.-74+14256_-74+14260delinsTATTA
NM_000049.2:c.263_267delinsTAATA (ASPA)	NP_000040.1:n.263_267delinsTAATA
NM_001128085.1:c.263_267delinsTAATA (ASPA)	NP_001121557.1:n.263_267delinsTAATA
XM_005256829.1:c.-74+14057_-74+14061delinsTATTA (SPATA22)	XP_005256886.1:n.-74+14057_-74+14061delinsTATTA
XM_005256830.1:c.-74+14057_-74+14061delinsTATTA (SPATA22)	XP_005256887.1:n.-74+14057_-74+14061delinsTATTA
XM_006721527.2:c.263_267delinsTAATA (ASPA)	XP_006721590.1:n.263_267delinsTAATA
NM_001321336.1:c.-74+14057_-74+14061delinsTATTA (SPATA22)	NP_001308265.1:n.-74+14057_-74+14061delinsTATTA
NM_001321337.1:c.-74+14057_-74+14061delinsTATTA (SPATA22)	NP_001308266.1:n.-74+14057_-74+14061delinsTATTA
XM_017024661.1:c.263_267delinsTAATA (ASPA)	XP_016880150.1:n.263_267delinsTAATA
XM_024450764.1:c.263_267delinsTAATA (ASPA)	XP_024306532.1:n.263_267delinsTAATA
XR_934026.2:n.1472_1476delinsTAATA (ASPA)
NM_000049.3:c.263_267delinsTAATA (ASPA)	NP_000040.1:n.263_267delinsTAATA
NM_000049.4:c.263_267delinsTAATA (ASPA) MANE Select	NP_000040.1:n.263_267delinsTAATA
NM_001321336.2:c.-74+14057_-74+14061delinsTATTA (SPATA22)	NP_001308265.1:n.-74+14057_-74+14061delinsTATTA
NM_001321337.2:c.-74+14057_-74+14061delinsTATTA (SPATA22)	NP_001308266.1:n.-74+14057_-74+14061delinsTATTA