Canonical Allele Identifier: CA980851156

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs2073964566
• gnomAD v3: 17-3499451-ACTTGT-A
• gnomAD v4: 17-3499451-ACTTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499452_3499456del , CM000679.2:g.3499452_3499456del	GRCh38
NC_000017.10:g.3402746_3402750del , CM000679.1:g.3402746_3402750del	GRCh37
NC_000017.9:g.3349496_3349500del	NCBI36
NG_008399.1:g.30343_30347del
NG_008399.2:g.30807_30811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*364_*368del (ASPA) MANE Select	ENSP00000263080.2:n.*364_*368del
ENST00000263080.2:c.*364_*368del (ASPA)	ENSP00000263080.2:n.*364_*368del
ENST00000541913.5:c.-74+13956_-74+13960del (SPATA22)	ENSP00000441920.1:n.-74+13956_-74+13960del
ENST00000570318.1:c.-74+14155_-74+14159del (SPATA22)	ENSP00000459147.1:n.-74+14155_-74+14159del
XM_005256829.1:c.-74+13956_-74+13960del (SPATA22)	XP_005256886.1:n.-74+13956_-74+13960del
XM_005256830.1:c.-74+13956_-74+13960del (SPATA22)	XP_005256887.1:n.-74+13956_-74+13960del
NM_001321336.1:c.-74+13956_-74+13960del (SPATA22)	NP_001308265.1:n.-74+13956_-74+13960del
NM_001321337.1:c.-74+13956_-74+13960del (SPATA22)	NP_001308266.1:n.-74+13956_-74+13960del
XM_017024661.1:c.*364_*368del (ASPA)	XP_016880150.1:n.*364_*368del
XM_024450764.1:c.*364_*368del (ASPA)	XP_024306532.1:n.*364_*368del
NM_000049.3:c.*364_*368del (ASPA)	NP_000040.1:n.*364_*368del
NM_000049.4:c.*364_*368del (ASPA) MANE Select	NP_000040.1:n.*364_*368del
NM_001321336.2:c.-74+13956_-74+13960del (SPATA22)	NP_001308265.1:n.-74+13956_-74+13960del
NM_001321337.2:c.-74+13956_-74+13960del (SPATA22)	NP_001308266.1:n.-74+13956_-74+13960del