Canonical Allele Identifier: CA2635398210

Gene: ASPA SPATA22

Linked Data

• gnomAD v4: 17-3499450-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499451_3499452del , CM000679.2:g.3499451_3499452del	GRCh38
NC_000017.10:g.3402745_3402746del , CM000679.1:g.3402745_3402746del	GRCh37
NC_000017.9:g.3349495_3349496del	NCBI36
NG_008399.1:g.30342_30343del
NG_008399.2:g.30806_30807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*363_*364del (ASPA) MANE Select	ENSP00000263080.2:n.*363_*364del
ENST00000263080.2:c.*363_*364del (ASPA)	ENSP00000263080.2:n.*363_*364del
ENST00000541913.5:c.-74+13960_-74+13961del (SPATA22)	ENSP00000441920.1:n.-74+13960_-74+13961del
ENST00000570318.1:c.-74+14159_-74+14160del (SPATA22)	ENSP00000459147.1:n.-74+14159_-74+14160del
XM_005256829.1:c.-74+13960_-74+13961del (SPATA22)	XP_005256886.1:n.-74+13960_-74+13961del
XM_005256830.1:c.-74+13960_-74+13961del (SPATA22)	XP_005256887.1:n.-74+13960_-74+13961del
NM_001321336.1:c.-74+13960_-74+13961del (SPATA22)	NP_001308265.1:n.-74+13960_-74+13961del
NM_001321337.1:c.-74+13960_-74+13961del (SPATA22)	NP_001308266.1:n.-74+13960_-74+13961del
XM_017024661.1:c.*363_*364del (ASPA)	XP_016880150.1:n.*363_*364del
XM_024450764.1:c.*363_*364del (ASPA)	XP_024306532.1:n.*363_*364del
NM_000049.3:c.*363_*364del (ASPA)	NP_000040.1:n.*363_*364del
NM_000049.4:c.*363_*364del (ASPA) MANE Select	NP_000040.1:n.*363_*364del
NM_001321336.2:c.-74+13960_-74+13961del (SPATA22)	NP_001308265.1:n.-74+13960_-74+13961del
NM_001321337.2:c.-74+13960_-74+13961del (SPATA22)	NP_001308266.1:n.-74+13960_-74+13961del