Canonical Allele Identifier: CA2695224133

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3494406_3494407insC , CM000679.2:g.3494406_3494407insC	GRCh38
NC_000017.10:g.3397700_3397701insC , CM000679.1:g.3397700_3397701insC	GRCh37
NC_000017.9:g.3344450_3344451insC	NCBI36
NG_008399.1:g.25297_25298insC
NG_008399.2:g.25761_25762insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.691_692insC (ASPA) MANE Select	ENSP00000263080.2:p.Tyr231SerfsTer5
ENST00000263080.2:c.691_692insC (ASPA)	ENSP00000263080.2:p.Tyr231SerfsTer5
ENST00000456349.6:c.691_692insC (ASPA)	ENSP00000409976.2:p.Tyr231SerfsTer5
ENST00000541913.5:c.-74+19005_-74+19006insG (SPATA22)	ENSP00000441920.1:n.-74+19005_-74+19006insG
ENST00000570318.1:c.-74+19204_-74+19205insG (SPATA22)	ENSP00000459147.1:n.-74+19204_-74+19205insG
NM_000049.2:c.691_692insC (ASPA)	NP_000040.1:p.Tyr231SerfsTer5
NM_001128085.1:c.691_692insC (ASPA)	NP_001121557.1:p.Tyr231SerfsTer5
XM_005256829.1:c.-74+19005_-74+19006insG (SPATA22)	XP_005256886.1:n.-74+19005_-74+19006insG
XM_005256830.1:c.-74+19005_-74+19006insG (SPATA22)	XP_005256887.1:n.-74+19005_-74+19006insG
XM_006721527.2:c.691_692insC (ASPA)	XP_006721590.1:p.Tyr231SerfsTer5
XR_934026.1:n.866_867insC (ASPA)
NM_001321336.1:c.-74+19005_-74+19006insG (SPATA22)	NP_001308265.1:n.-74+19005_-74+19006insG
NM_001321337.1:c.-74+19005_-74+19006insG (SPATA22)	NP_001308266.1:n.-74+19005_-74+19006insG
XM_017024661.1:c.691_692insC (ASPA)	XP_016880150.1:p.Tyr231SerfsTer5
XM_024450764.1:c.691_692insC (ASPA)	XP_024306532.1:p.Tyr231SerfsTer5
XR_934026.2:n.866_867insC (ASPA)
NM_000049.3:c.691_692insC (ASPA)	NP_000040.1:p.Tyr231SerfsTer5
NM_000049.4:c.691_692insC (ASPA) MANE Select	NP_000040.1:p.Tyr231SerfsTer5
NM_001321336.2:c.-74+19005_-74+19006insG (SPATA22)	NP_001308265.1:n.-74+19005_-74+19006insG
NM_001321337.2:c.-74+19005_-74+19006insG (SPATA22)	NP_001308266.1:n.-74+19005_-74+19006insG