Canonical Allele Identifier: CA2243897622

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs2073963756
• gnomAD v4: 17-3499398-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499399dup , CM000679.2:g.3499399dup	GRCh38
NC_000017.10:g.3402693dup , CM000679.1:g.3402693dup	GRCh37
NC_000017.9:g.3349443dup	NCBI36
NG_008399.1:g.30290dup
NG_008399.2:g.30754dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*311dup (ASPA) MANE Select	ENSP00000263080.2:n.*311dup
ENST00000263080.2:c.*311dup (ASPA)	ENSP00000263080.2:n.*311dup
ENST00000541913.5:c.-74+14013dup (SPATA22)	ENSP00000441920.1:n.-74+14013dup
ENST00000570318.1:c.-74+14212dup (SPATA22)	ENSP00000459147.1:n.-74+14212dup
NM_000049.2:c.*311dup (ASPA)	NP_000040.1:n.*311dup
NM_001128085.1:c.*311dup (ASPA)	NP_001121557.1:n.*311dup
XM_005256829.1:c.-74+14013dup (SPATA22)	XP_005256886.1:n.-74+14013dup
XM_005256830.1:c.-74+14013dup (SPATA22)	XP_005256887.1:n.-74+14013dup
XM_006721527.2:c.*311dup (ASPA)	XP_006721590.1:n.*311dup
NM_001321336.1:c.-74+14013dup (SPATA22)	NP_001308265.1:n.-74+14013dup
NM_001321337.1:c.-74+14013dup (SPATA22)	NP_001308266.1:n.-74+14013dup
XM_017024661.1:c.*311dup (ASPA)	XP_016880150.1:n.*311dup
XM_024450764.1:c.*311dup (ASPA)	XP_024306532.1:n.*311dup
NM_000049.3:c.*311dup (ASPA)	NP_000040.1:n.*311dup
NM_000049.4:c.*311dup (ASPA) MANE Select	NP_000040.1:n.*311dup
NM_001321336.2:c.-74+14013dup (SPATA22)	NP_001308265.1:n.-74+14013dup
NM_001321337.2:c.-74+14013dup (SPATA22)	NP_001308266.1:n.-74+14013dup