Canonical Allele Identifier: CA2243897243

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499068_3499069delinsAT , CM000679.2:g.3499068_3499069delinsAT	GRCh38
NC_000017.10:g.3402362_3402363delinsAT , CM000679.1:g.3402362_3402363delinsAT	GRCh37
NC_000017.9:g.3349112_3349113delinsAT	NCBI36
NG_008399.1:g.29959_29960delinsAT
NG_008399.2:g.30423_30424delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.922_923delinsAT (ASPA) MANE Select	ENSP00000263080.2:p.Ile308=
ENST00000263080.2:c.922_923delinsAT (ASPA)	ENSP00000263080.2:p.Ile308=
ENST00000456349.6:c.922_923delinsAT (ASPA)	ENSP00000409976.2:p.Ile308=
ENST00000541913.5:c.-74+14343_-74+14344delinsAT (SPATA22)	ENSP00000441920.1:n.-74+14343_-74+14344delinsAT
ENST00000570318.1:c.-74+14542_-74+14543delinsAT (SPATA22)	ENSP00000459147.1:n.-74+14542_-74+14543delinsAT
NM_000049.2:c.922_923delinsAT (ASPA)	NP_000040.1:p.Ile308=
NM_001128085.1:c.922_923delinsAT (ASPA)	NP_001121557.1:p.Ile308=
XM_005256829.1:c.-74+14343_-74+14344delinsAT (SPATA22)	XP_005256886.1:n.-74+14343_-74+14344delinsAT
XM_005256830.1:c.-74+14343_-74+14344delinsAT (SPATA22)	XP_005256887.1:n.-74+14343_-74+14344delinsAT
XM_006721527.2:c.922_923delinsAT (ASPA)	XP_006721590.1:p.Ile308=
NM_001321336.1:c.-74+14343_-74+14344delinsAT (SPATA22)	NP_001308265.1:n.-74+14343_-74+14344delinsAT
NM_001321337.1:c.-74+14343_-74+14344delinsAT (SPATA22)	NP_001308266.1:n.-74+14343_-74+14344delinsAT
XM_017024661.1:c.922_923delinsAT (ASPA)	XP_016880150.1:p.Ile308=
XM_024450764.1:c.922_923delinsAT (ASPA)	XP_024306532.1:p.Ile308=
XR_934026.2:n.1189_1190delinsAT (ASPA)
NM_000049.3:c.922_923delinsAT (ASPA)	NP_000040.1:p.Ile308=
NM_000049.4:c.922_923delinsAT (ASPA) MANE Select	NP_000040.1:p.Ile308=
NM_001321336.2:c.-74+14343_-74+14344delinsAT (SPATA22)	NP_001308265.1:n.-74+14343_-74+14344delinsAT
NM_001321337.2:c.-74+14343_-74+14344delinsAT (SPATA22)	NP_001308266.1:n.-74+14343_-74+14344delinsAT