Canonical Allele Identifier: CA2243897688

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499453_3499458delinsTTGTAC , CM000679.2:g.3499453_3499458delinsTTGTAC	GRCh38
NC_000017.10:g.3402747_3402752delinsTTGTAC , CM000679.1:g.3402747_3402752delinsTTGTAC	GRCh37
NC_000017.9:g.3349497_3349502delinsTTGTAC	NCBI36
NG_008399.1:g.30344_30349delinsTTGTAC
NG_008399.2:g.30808_30813delinsTTGTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*365_*370delinsTTGTAC (ASPA) MANE Select	ENSP00000263080.2:n.*365_*370delinsTTGTAC
ENST00000263080.2:c.*365_*370delinsTTGTAC (ASPA)	ENSP00000263080.2:n.*365_*370delinsTTGTAC
ENST00000541913.5:c.-74+13954_-74+13959delinsGTACAA (SPATA22)	ENSP00000441920.1:n.-74+13954_-74+13959delinsGTACAA
ENST00000570318.1:c.-74+14153_-74+14158delinsGTACAA (SPATA22)	ENSP00000459147.1:n.-74+14153_-74+14158delinsGTACAA
XM_005256829.1:c.-74+13954_-74+13959delinsGTACAA (SPATA22)	XP_005256886.1:n.-74+13954_-74+13959delinsGTACAA
XM_005256830.1:c.-74+13954_-74+13959delinsGTACAA (SPATA22)	XP_005256887.1:n.-74+13954_-74+13959delinsGTACAA
NM_001321336.1:c.-74+13954_-74+13959delinsGTACAA (SPATA22)	NP_001308265.1:n.-74+13954_-74+13959delinsGTACAA
NM_001321337.1:c.-74+13954_-74+13959delinsGTACAA (SPATA22)	NP_001308266.1:n.-74+13954_-74+13959delinsGTACAA
XM_017024661.1:c.*365_*370delinsTTGTAC (ASPA)	XP_016880150.1:n.*365_*370delinsTTGTAC
XM_024450764.1:c.*365_*370delinsTTGTAC (ASPA)	XP_024306532.1:n.*365_*370delinsTTGTAC
NM_000049.3:c.*365_*370delinsTTGTAC (ASPA)	NP_000040.1:n.*365_*370delinsTTGTAC
NM_000049.4:c.*365_*370delinsTTGTAC (ASPA) MANE Select	NP_000040.1:n.*365_*370delinsTTGTAC
NM_001321336.2:c.-74+13954_-74+13959delinsGTACAA (SPATA22)	NP_001308265.1:n.-74+13954_-74+13959delinsGTACAA
NM_001321337.2:c.-74+13954_-74+13959delinsGTACAA (SPATA22)	NP_001308266.1:n.-74+13954_-74+13959delinsGTACAA