Canonical Allele Identifier: CA728314149

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs1159747651
• gnomAD v4: 17-3494569-A-AAT
• MyVariant Identifiers: chr17:g.3397863_3397864insAT (hg19) ; chr17:g.3494569_3494570insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3494569_3494570insAT , CM000679.2:g.3494569_3494570insAT	GRCh38
NC_000017.10:g.3397863_3397864insAT , CM000679.1:g.3397863_3397864insAT	GRCh37
NC_000017.9:g.3344613_3344614insAT	NCBI36
NG_008399.1:g.25460_25461insAT
NG_008399.2:g.25924_25925insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.744+110_744+111insAT (ASPA) MANE Select	ENSP00000263080.2:n.744+110_744+111insAT
ENST00000263080.2:c.744+110_744+111insAT (ASPA)	ENSP00000263080.2:n.744+110_744+111insAT
ENST00000456349.6:c.744+110_744+111insAT (ASPA)	ENSP00000409976.2:n.744+110_744+111insAT
ENST00000541913.5:c.-74+18842_-74+18843insAT (SPATA22)	ENSP00000441920.1:n.-74+18842_-74+18843insAT
ENST00000570318.1:c.-74+19041_-74+19042insAT (SPATA22)	ENSP00000459147.1:n.-74+19041_-74+19042insAT
NM_000049.2:c.744+110_744+111insAT (ASPA)	NP_000040.1:n.744+110_744+111insAT
NM_001128085.1:c.744+110_744+111insAT (ASPA)	NP_001121557.1:n.744+110_744+111insAT
XM_005256829.1:c.-74+18842_-74+18843insAT (SPATA22)	XP_005256886.1:n.-74+18842_-74+18843insAT
XM_005256830.1:c.-74+18842_-74+18843insAT (SPATA22)	XP_005256887.1:n.-74+18842_-74+18843insAT
XM_006721527.2:c.744+110_744+111insAT (ASPA)	XP_006721590.1:n.744+110_744+111insAT
XR_934026.1:n.919+110_919+111insAT (ASPA)
NM_001321336.1:c.-74+18842_-74+18843insAT (SPATA22)	NP_001308265.1:n.-74+18842_-74+18843insAT
NM_001321337.1:c.-74+18842_-74+18843insAT (SPATA22)	NP_001308266.1:n.-74+18842_-74+18843insAT
XM_017024661.1:c.744+110_744+111insAT (ASPA)	XP_016880150.1:n.744+110_744+111insAT
XM_024450764.1:c.744+110_744+111insAT (ASPA)	XP_024306532.1:n.744+110_744+111insAT
XR_934026.2:n.919+110_919+111insAT (ASPA)
NM_000049.3:c.744+110_744+111insAT (ASPA)	NP_000040.1:n.744+110_744+111insAT
NM_000049.4:c.744+110_744+111insAT (ASPA) MANE Select	NP_000040.1:n.744+110_744+111insAT
NM_001321336.2:c.-74+18842_-74+18843insAT (SPATA22)	NP_001308265.1:n.-74+18842_-74+18843insAT
NM_001321337.2:c.-74+18842_-74+18843insAT (SPATA22)	NP_001308266.1:n.-74+18842_-74+18843insAT