Canonical Allele Identifier: CA8288880

Gene: ASPA SPATA22

Linked Data

• ClinVar Variation Id: 370554
• ClinVar RCV Id: RCV000411166 ; RCV000780872
• dbSNP Id: rs756198538
• ExAC: 17:3384897 C / CA
• gnomAD v2: 17-3384897-C-CA
• gnomAD v3: 17-3481603-C-CA
• gnomAD v4: 17-3481603-C-CA
• MyVariant Identifiers: chr17:g.3384904dupA (hg19) ; chr17:g.3384897_3384898insA (hg19) ; chr17:g.3481610dupA (hg38) ; chr17:g.3481603_3481604insA (hg38)
• PubMed: PMID:10407784 ; PMID:12638939

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3481610dup , CM000679.2:g.3481610dup	GRCh38
NC_000017.10:g.3384904dup , CM000679.1:g.3384904dup	GRCh37
NC_000017.9:g.3331654dup	NCBI36
NG_008399.1:g.12501dup
NG_008399.2:g.12965dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.244dup (ASPA) MANE Select	ENSP00000263080.2:p.Met82AsnfsTer8
ENST00000263080.2:c.244dup (ASPA)	ENSP00000263080.2:p.Met82AsnfsTer8
ENST00000456349.6:c.244dup (ASPA)	ENSP00000409976.2:p.Met82AsnfsTer8
ENST00000541913.5:c.-73-12206dup (SPATA22)	ENSP00000441920.1:n.-73-12206dup
ENST00000570318.1:c.-73-12206dup (SPATA22)	ENSP00000459147.1:n.-73-12206dup
ENST00000571278.1:c.149dup (ASPA)	ENSP00000461358.1:p.Asn50LysfsTer10
NM_000049.2:c.244dup (ASPA)	NP_000040.1:p.Met82AsnfsTer8
NM_001128085.1:c.244dup (ASPA)	NP_001121557.1:p.Met82AsnfsTer8
XM_005256829.1:c.-73-12206dup (SPATA22)	XP_005256886.1:n.-73-12206dup
XM_005256830.1:c.-73-12206dup (SPATA22)	XP_005256887.1:n.-73-12206dup
XM_006721527.2:c.244dup (ASPA)	XP_006721590.1:p.Met82AsnfsTer8
XR_934026.1:n.419dup (ASPA)
NM_001321336.1:c.-73-12206dup (SPATA22)	NP_001308265.1:n.-73-12206dup
NM_001321337.1:c.-73-12206dup (SPATA22)	NP_001308266.1:n.-73-12206dup
XM_017024661.1:c.244dup (ASPA)	XP_016880150.1:p.Met82AsnfsTer8
XM_024450764.1:c.244dup (ASPA)	XP_024306532.1:p.Met82AsnfsTer8
XR_934026.2:n.419dup (ASPA)
NM_000049.3:c.244dup (ASPA)	NP_000040.1:p.Met82AsnfsTer8
NM_000049.4:c.244dup (ASPA) MANE Select	NP_000040.1:p.Met82AsnfsTer8
NM_001321336.2:c.-73-12206dup (SPATA22)	NP_001308265.1:n.-73-12206dup
NM_001321337.2:c.-73-12206dup (SPATA22)	NP_001308266.1:n.-73-12206dup