Canonical Allele Identifier: CA2635398115

Gene: ASPA SPATA22

Linked Data

• gnomAD v4: 17-3499264-ATATTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499268_3499272del , CM000679.2:g.3499268_3499272del	GRCh38
NC_000017.10:g.3402562_3402566del , CM000679.1:g.3402562_3402566del	GRCh37
NC_000017.9:g.3349312_3349316del	NCBI36
NG_008399.1:g.30159_30163del
NG_008399.2:g.30623_30627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*180_*184del (ASPA) MANE Select	ENSP00000263080.2:n.*180_*184del
ENST00000263080.2:c.*180_*184del (ASPA)	ENSP00000263080.2:n.*180_*184del
ENST00000541913.5:c.-74+14143_-74+14147del (SPATA22)	ENSP00000441920.1:n.-74+14143_-74+14147del
ENST00000570318.1:c.-74+14342_-74+14346del (SPATA22)	ENSP00000459147.1:n.-74+14342_-74+14346del
NM_000049.2:c.*180_*184del (ASPA)	NP_000040.1:n.*180_*184del
NM_001128085.1:c.*180_*184del (ASPA)	NP_001121557.1:n.*180_*184del
XM_005256829.1:c.-74+14143_-74+14147del (SPATA22)	XP_005256886.1:n.-74+14143_-74+14147del
XM_005256830.1:c.-74+14143_-74+14147del (SPATA22)	XP_005256887.1:n.-74+14143_-74+14147del
XM_006721527.2:c.*180_*184del (ASPA)	XP_006721590.1:n.*180_*184del
NM_001321336.1:c.-74+14143_-74+14147del (SPATA22)	NP_001308265.1:n.-74+14143_-74+14147del
NM_001321337.1:c.-74+14143_-74+14147del (SPATA22)	NP_001308266.1:n.-74+14143_-74+14147del
XM_017024661.1:c.*180_*184del (ASPA)	XP_016880150.1:n.*180_*184del
XM_024450764.1:c.*180_*184del (ASPA)	XP_024306532.1:n.*180_*184del
XR_934026.2:n.1389_1393del (ASPA)
NM_000049.3:c.*180_*184del (ASPA)	NP_000040.1:n.*180_*184del
NM_000049.4:c.*180_*184del (ASPA) MANE Select	NP_000040.1:n.*180_*184del
NM_001321336.2:c.-74+14143_-74+14147del (SPATA22)	NP_001308265.1:n.-74+14143_-74+14147del
NM_001321337.2:c.-74+14143_-74+14147del (SPATA22)	NP_001308266.1:n.-74+14143_-74+14147del