Canonical Allele Identifier: CA3273072534

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3498966_3498968delinsAGG , CM000679.2:g.3498966_3498968delinsAGG	GRCh38
NC_000017.10:g.3402260_3402262delinsAGG , CM000679.1:g.3402260_3402262delinsAGG	GRCh37
NC_000017.9:g.3349010_3349012delinsAGG	NCBI36
NG_008399.1:g.29857_29859delinsAGG
NG_008399.2:g.30321_30323delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
NM_000049.4:c.820_822delinsAGG (ASPA) MANE Select	NP_000040.1:p.Gly274Arg
ENST00000263080.3:c.820_822delinsAGG (ASPA) MANE Select	ENSP00000263080.2:p.Gly274Arg
NM_000049.2:c.820_822delinsAGG (ASPA)	NP_000040.1:p.Gly274Arg
NM_000049.3:c.820_822delinsAGG (ASPA)	NP_000040.1:p.Gly274Arg
NM_001128085.1:c.820_822delinsAGG (ASPA)	NP_001121557.1:p.Gly274Arg
NM_001321336.1:c.-74+14444_-74+14446delinsCCT (SPATA22)	NP_001308265.1:n.-74+14444_-74+14446delinsCCT
NM_001321336.2:c.-74+14444_-74+14446delinsCCT (SPATA22)	NP_001308265.1:n.-74+14444_-74+14446delinsCCT
NM_001321337.1:c.-74+14444_-74+14446delinsCCT (SPATA22)	NP_001308266.1:n.-74+14444_-74+14446delinsCCT
NM_001321337.2:c.-74+14444_-74+14446delinsCCT (SPATA22)	NP_001308266.1:n.-74+14444_-74+14446delinsCCT
ENST00000263080.2:c.820_822delinsAGG (ASPA)	ENSP00000263080.2:p.Gly274Arg
ENST00000456349.6:c.820_822delinsAGG (ASPA)	ENSP00000409976.2:p.Gly274Arg
ENST00000541913.5:c.-74+14444_-74+14446delinsCCT (SPATA22)	ENSP00000441920.1:n.-74+14444_-74+14446delinsCCT
ENST00000570318.1:c.-74+14643_-74+14645delinsCCT (SPATA22)	ENSP00000459147.1:n.-74+14643_-74+14645delinsCCT
XM_005256829.1:c.-74+14444_-74+14446delinsCCT (SPATA22)	XP_005256886.1:n.-74+14444_-74+14446delinsCCT
XM_005256830.1:c.-74+14444_-74+14446delinsCCT (SPATA22)	XP_005256887.1:n.-74+14444_-74+14446delinsCCT
XM_006721527.2:c.820_822delinsAGG (ASPA)	XP_006721590.1:p.Gly274Arg
XM_017024661.1:c.820_822delinsAGG (ASPA)	XP_016880150.1:p.Gly274Arg
XM_024450764.1:c.820_822delinsAGG (ASPA)	XP_024306532.1:p.Gly274Arg
XR_934026.1:n.1087_1089delinsAGG (ASPA)
XR_934026.2:n.1087_1089delinsAGG (ASPA)