Canonical Allele Identifier: CA2243897019

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3498971_3498973delinsCTG , CM000679.2:g.3498971_3498973delinsCTG	GRCh38
NC_000017.10:g.3402265_3402267delinsCTG , CM000679.1:g.3402265_3402267delinsCTG	GRCh37
NC_000017.9:g.3349015_3349017delinsCTG	NCBI36
NG_008399.1:g.29862_29864delinsCTG
NG_008399.2:g.30326_30328delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.825_827delinsCTG (ASPA) MANE Select	ENSP00000263080.2:p.Asp275=
ENST00000263080.2:c.825_827delinsCTG (ASPA)	ENSP00000263080.2:p.Asp275=
ENST00000456349.6:c.825_827delinsCTG (ASPA)	ENSP00000409976.2:p.Asp275=
ENST00000541913.5:c.-74+14439_-74+14441delinsCAG (SPATA22)	ENSP00000441920.1:n.-74+14439_-74+14441de...
ENST00000570318.1:c.-74+14638_-74+14640delinsCAG (SPATA22)	ENSP00000459147.1:n.-74+14638_-74+14640de...
NM_000049.2:c.825_827delinsCTG (ASPA)	NP_000040.1:p.Asp275=
NM_001128085.1:c.825_827delinsCTG (ASPA)	NP_001121557.1:p.Asp275=
XM_005256829.1:c.-74+14439_-74+14441delinsCAG (SPATA22)	XP_005256886.1:n.-74+14439_-74+14441delin...
XM_005256830.1:c.-74+14439_-74+14441delinsCAG (SPATA22)	XP_005256887.1:n.-74+14439_-74+14441delin...
XM_006721527.2:c.825_827delinsCTG (ASPA)	XP_006721590.1:p.Asp275=
XR_934026.1:n.1092_1094delinsCTG (ASPA)
NM_001321336.1:c.-74+14439_-74+14441delinsCAG (SPATA22)	NP_001308265.1:n.-74+14439_-74+14441delin...
NM_001321337.1:c.-74+14439_-74+14441delinsCAG (SPATA22)	NP_001308266.1:n.-74+14439_-74+14441delin...
XM_017024661.1:c.825_827delinsCTG (ASPA)	XP_016880150.1:p.Asp275=
XM_024450764.1:c.825_827delinsCTG (ASPA)	XP_024306532.1:p.Asp275=
XR_934026.2:n.1092_1094delinsCTG (ASPA)
NM_000049.3:c.825_827delinsCTG (ASPA)	NP_000040.1:p.Asp275=
NM_000049.4:c.825_827delinsCTG (ASPA) MANE Select	NP_000040.1:p.Asp275=
NM_001321336.2:c.-74+14439_-74+14441delinsCAG (SPATA22)	NP_001308265.1:n.-74+14439_-74+14441delin...
NM_001321337.2:c.-74+14439_-74+14441delinsCAG (SPATA22)	NP_001308266.1:n.-74+14439_-74+14441delin...