Canonical Allele Identifier: CA728317402

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs1338212903
• gnomAD v3: 17-3499452-CTTGTACT-C
• gnomAD v4: 17-3499452-CTTGTACT-C
• MyVariant Identifiers: chr17:g.3402747_3402753del (hg19) ; chr17:g.3499453_3499459del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499455_3499461del , CM000679.2:g.3499455_3499461del	GRCh38
NC_000017.10:g.3402749_3402755del , CM000679.1:g.3402749_3402755del	GRCh37
NC_000017.9:g.3349499_3349505del	NCBI36
NG_008399.1:g.30346_30352del
NG_008399.2:g.30810_30816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*367_*373del (ASPA) MANE Select	ENSP00000263080.2:n.*367_*373del
ENST00000263080.2:c.*367_*373del (ASPA)	ENSP00000263080.2:n.*367_*373del
ENST00000541913.5:c.-74+13953_-74+13959del (SPATA22)	ENSP00000441920.1:n.-74+13953_-74+13959del
ENST00000570318.1:c.-74+14152_-74+14158del (SPATA22)	ENSP00000459147.1:n.-74+14152_-74+14158del
XM_005256829.1:c.-74+13953_-74+13959del (SPATA22)	XP_005256886.1:n.-74+13953_-74+13959del
XM_005256830.1:c.-74+13953_-74+13959del (SPATA22)	XP_005256887.1:n.-74+13953_-74+13959del
NM_001321336.1:c.-74+13953_-74+13959del (SPATA22)	NP_001308265.1:n.-74+13953_-74+13959del
NM_001321337.1:c.-74+13953_-74+13959del (SPATA22)	NP_001308266.1:n.-74+13953_-74+13959del
XM_017024661.1:c.*367_*373del (ASPA)	XP_016880150.1:n.*367_*373del
XM_024450764.1:c.*367_*373del (ASPA)	XP_024306532.1:n.*367_*373del
NM_000049.3:c.*367_*373del (ASPA)	NP_000040.1:n.*367_*373del
NM_000049.4:c.*367_*373del (ASPA) MANE Select	NP_000040.1:n.*367_*373del
NM_001321336.2:c.-74+13953_-74+13959del (SPATA22)	NP_001308265.1:n.-74+13953_-74+13959del
NM_001321337.2:c.-74+13953_-74+13959del (SPATA22)	NP_001308266.1:n.-74+13953_-74+13959del