Canonical Allele Identifier: CA2733112252

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs2150764688

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499401_3499402del , CM000679.2:g.3499401_3499402del	GRCh38
NC_000017.10:g.3402695_3402696del , CM000679.1:g.3402695_3402696del	GRCh37
NC_000017.9:g.3349445_3349446del	NCBI36
NG_008399.1:g.30292_30293del
NG_008399.2:g.30756_30757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*313_*314del (ASPA) MANE Select	ENSP00000263080.2:n.*313_*314del
ENST00000263080.2:c.*313_*314del (ASPA)	ENSP00000263080.2:n.*313_*314del
ENST00000541913.5:c.-74+14011_-74+14012del (SPATA22)	ENSP00000441920.1:n.-74+14011_-74+14012del
ENST00000570318.1:c.-74+14210_-74+14211del (SPATA22)	ENSP00000459147.1:n.-74+14210_-74+14211del
NM_000049.2:c.*313_*314del (ASPA)	NP_000040.1:n.*313_*314del
NM_001128085.1:c.*313_*314del (ASPA)	NP_001121557.1:n.*313_*314del
XM_005256829.1:c.-74+14011_-74+14012del (SPATA22)	XP_005256886.1:n.-74+14011_-74+14012del
XM_005256830.1:c.-74+14011_-74+14012del (SPATA22)	XP_005256887.1:n.-74+14011_-74+14012del
XM_006721527.2:c.*313_*314del (ASPA)	XP_006721590.1:n.*313_*314del
NM_001321336.1:c.-74+14011_-74+14012del (SPATA22)	NP_001308265.1:n.-74+14011_-74+14012del
NM_001321337.1:c.-74+14011_-74+14012del (SPATA22)	NP_001308266.1:n.-74+14011_-74+14012del
XM_017024661.1:c.*313_*314del (ASPA)	XP_016880150.1:n.*313_*314del
XM_024450764.1:c.*313_*314del (ASPA)	XP_024306532.1:n.*313_*314del
NM_000049.3:c.*313_*314del (ASPA)	NP_000040.1:n.*313_*314del
NM_000049.4:c.*313_*314del (ASPA) MANE Select	NP_000040.1:n.*313_*314del
NM_001321336.2:c.-74+14011_-74+14012del (SPATA22)	NP_001308265.1:n.-74+14011_-74+14012del
NM_001321337.2:c.-74+14011_-74+14012del (SPATA22)	NP_001308266.1:n.-74+14011_-74+14012del