Canonical Allele Identifier: CA2635398206

Gene: ASPA SPATA22

Linked Data

• gnomAD v4: 17-3499447-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499449_3499450del , CM000679.2:g.3499449_3499450del	GRCh38
NC_000017.10:g.3402743_3402744del , CM000679.1:g.3402743_3402744del	GRCh37
NC_000017.9:g.3349493_3349494del	NCBI36
NG_008399.1:g.30340_30341del
NG_008399.2:g.30804_30805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*361_*362del (ASPA) MANE Select	ENSP00000263080.2:n.*361_*362del
ENST00000263080.2:c.*361_*362del (ASPA)	ENSP00000263080.2:n.*361_*362del
ENST00000541913.5:c.-74+13963_-74+13964del (SPATA22)	ENSP00000441920.1:n.-74+13963_-74+13964del
ENST00000570318.1:c.-74+14162_-74+14163del (SPATA22)	ENSP00000459147.1:n.-74+14162_-74+14163del
XM_005256829.1:c.-74+13963_-74+13964del (SPATA22)	XP_005256886.1:n.-74+13963_-74+13964del
XM_005256830.1:c.-74+13963_-74+13964del (SPATA22)	XP_005256887.1:n.-74+13963_-74+13964del
NM_001321336.1:c.-74+13963_-74+13964del (SPATA22)	NP_001308265.1:n.-74+13963_-74+13964del
NM_001321337.1:c.-74+13963_-74+13964del (SPATA22)	NP_001308266.1:n.-74+13963_-74+13964del
XM_017024661.1:c.*361_*362del (ASPA)	XP_016880150.1:n.*361_*362del
XM_024450764.1:c.*361_*362del (ASPA)	XP_024306532.1:n.*361_*362del
NM_000049.3:c.*361_*362del (ASPA)	NP_000040.1:n.*361_*362del
NM_000049.4:c.*361_*362del (ASPA) MANE Select	NP_000040.1:n.*361_*362del
NM_001321336.2:c.-74+13963_-74+13964del (SPATA22)	NP_001308265.1:n.-74+13963_-74+13964del
NM_001321337.2:c.-74+13963_-74+13964del (SPATA22)	NP_001308266.1:n.-74+13963_-74+13964del