Canonical Allele Identifier: CA2580092488

Gene: ASPA SPATA22

Linked Data

• ClinVar Variation Id: 2025519
• ClinVar RCV Id: RCV002880558
• gnomAD v4: 17-3481712-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3481713_3481714insAA , CM000679.2:g.3481713_3481714insAA	GRCh38
NC_000017.10:g.3385007_3385008insAA , CM000679.1:g.3385007_3385008insAA	GRCh37
NC_000017.9:g.3331757_3331758insAA	NCBI36
NG_008399.1:g.12604_12605insAA
NG_008399.2:g.13068_13069insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.347_348insAA (ASPA) MANE Select	ENSP00000263080.2:p.His116GlnfsTer22
ENST00000263080.2:c.347_348insAA (ASPA)	ENSP00000263080.2:p.His116GlnfsTer22
ENST00000456349.6:c.347_348insAA (ASPA)	ENSP00000409976.2:p.His116GlnfsTer22
ENST00000541913.5:c.-73-12315_-73-12314insTT (SPATA22)	ENSP00000441920.1:n.-73-12315_-73-12314insTT
ENST00000570318.1:c.-73-12315_-73-12314insTT (SPATA22)	ENSP00000459147.1:n.-73-12315_-73-12314insTT
ENST00000571278.1:c.*81_*82insAA (ASPA)	ENSP00000461358.1:n.*81_*82insAA
NM_000049.2:c.347_348insAA (ASPA)	NP_000040.1:p.His116GlnfsTer22
NM_001128085.1:c.347_348insAA (ASPA)	NP_001121557.1:p.His116GlnfsTer22
XM_005256829.1:c.-73-12315_-73-12314insTT (SPATA22)	XP_005256886.1:n.-73-12315_-73-12314insTT
XM_005256830.1:c.-73-12315_-73-12314insTT (SPATA22)	XP_005256887.1:n.-73-12315_-73-12314insTT
XM_006721527.2:c.347_348insAA (ASPA)	XP_006721590.1:p.His116GlnfsTer22
XR_934026.1:n.522_523insAA (ASPA)
NM_001321336.1:c.-73-12315_-73-12314insTT (SPATA22)	NP_001308265.1:n.-73-12315_-73-12314insTT
NM_001321337.1:c.-73-12315_-73-12314insTT (SPATA22)	NP_001308266.1:n.-73-12315_-73-12314insTT
XM_017024661.1:c.347_348insAA (ASPA)	XP_016880150.1:p.His116GlnfsTer22
XM_024450764.1:c.347_348insAA (ASPA)	XP_024306532.1:p.His116GlnfsTer22
XR_934026.2:n.522_523insAA (ASPA)
NM_000049.3:c.347_348insAA (ASPA)	NP_000040.1:p.His116GlnfsTer22
NM_000049.4:c.347_348insAA (ASPA) MANE Select	NP_000040.1:p.His116GlnfsTer22
NM_001321336.2:c.-73-12315_-73-12314insTT (SPATA22)	NP_001308265.1:n.-73-12315_-73-12314insTT
NM_001321337.2:c.-73-12315_-73-12314insTT (SPATA22)	NP_001308266.1:n.-73-12315_-73-12314insTT