Canonical Allele Identifier: CA3273074536

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499000_3499001delinsCC , CM000679.2:g.3499000_3499001delinsCC	GRCh38
NC_000017.10:g.3402294_3402295delinsCC , CM000679.1:g.3402294_3402295delinsCC	GRCh37
NC_000017.9:g.3349044_3349045delinsCC	NCBI36
NG_008399.1:g.29891_29892delinsCC
NG_008399.2:g.30355_30356delinsCC

Transcript Alleles

HGVS	Amino-acid Change
NM_000049.4:c.854_855delinsCC (ASPA) MANE Select	NP_000040.1:p.Glu285Ala
ENST00000263080.3:c.854_855delinsCC (ASPA) MANE Select	ENSP00000263080.2:p.Glu285Ala
NM_000049.2:c.854_855delinsCC (ASPA)	NP_000040.1:p.Glu285Ala
NM_000049.3:c.854_855delinsCC (ASPA)	NP_000040.1:p.Glu285Ala
NM_001128085.1:c.854_855delinsCC (ASPA)	NP_001121557.1:p.Glu285Ala
NM_001321336.1:c.-74+14411_-74+14412delinsGG (SPATA22)	NP_001308265.1:n.-74+14411_-74+14412delinsGG
NM_001321336.2:c.-74+14411_-74+14412delinsGG (SPATA22)	NP_001308265.1:n.-74+14411_-74+14412delinsGG
NM_001321337.1:c.-74+14411_-74+14412delinsGG (SPATA22)	NP_001308266.1:n.-74+14411_-74+14412delinsGG
NM_001321337.2:c.-74+14411_-74+14412delinsGG (SPATA22)	NP_001308266.1:n.-74+14411_-74+14412delinsGG
ENST00000263080.2:c.854_855delinsCC (ASPA)	ENSP00000263080.2:p.Glu285Ala
ENST00000456349.6:c.854_855delinsCC (ASPA)	ENSP00000409976.2:p.Glu285Ala
ENST00000541913.5:c.-74+14411_-74+14412delinsGG (SPATA22)	ENSP00000441920.1:n.-74+14411_-74+14412delinsGG
ENST00000570318.1:c.-74+14610_-74+14611delinsGG (SPATA22)	ENSP00000459147.1:n.-74+14610_-74+14611delinsGG
XM_005256829.1:c.-74+14411_-74+14412delinsGG (SPATA22)	XP_005256886.1:n.-74+14411_-74+14412delinsGG
XM_005256830.1:c.-74+14411_-74+14412delinsGG (SPATA22)	XP_005256887.1:n.-74+14411_-74+14412delinsGG
XM_006721527.2:c.854_855delinsCC (ASPA)	XP_006721590.1:p.Glu285Ala
XM_017024661.1:c.854_855delinsCC (ASPA)	XP_016880150.1:p.Glu285Ala
XM_024450764.1:c.854_855delinsCC (ASPA)	XP_024306532.1:p.Glu285Ala
XR_934026.2:n.1121_1122delinsCC (ASPA)