Canonical Allele Identifier: CA3273078240

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3494407_3494408delinsGT , CM000679.2:g.3494407_3494408delinsGT	GRCh38
NC_000017.10:g.3397701_3397702delinsGT , CM000679.1:g.3397701_3397702delinsGT	GRCh37
NC_000017.9:g.3344451_3344452delinsGT	NCBI36
NG_008399.1:g.25298_25299delinsGT
NG_008399.2:g.25762_25763delinsGT

Transcript Alleles

HGVS	Amino-acid Change
NM_000049.4:c.692_693delinsGT (ASPA) MANE Select	NP_000040.1:p.Tyr231Cys
ENST00000263080.3:c.692_693delinsGT (ASPA) MANE Select	ENSP00000263080.2:p.Tyr231Cys
NM_000049.2:c.692_693delinsGT (ASPA)	NP_000040.1:p.Tyr231Cys
NM_000049.3:c.692_693delinsGT (ASPA)	NP_000040.1:p.Tyr231Cys
NM_001128085.1:c.692_693delinsGT (ASPA)	NP_001121557.1:p.Tyr231Cys
NM_001321336.1:c.-74+19004_-74+19005delinsAC (SPATA22)	NP_001308265.1:n.-74+19004_-74+19005delinsAC
NM_001321336.2:c.-74+19004_-74+19005delinsAC (SPATA22)	NP_001308265.1:n.-74+19004_-74+19005delinsAC
NM_001321337.1:c.-74+19004_-74+19005delinsAC (SPATA22)	NP_001308266.1:n.-74+19004_-74+19005delinsAC
NM_001321337.2:c.-74+19004_-74+19005delinsAC (SPATA22)	NP_001308266.1:n.-74+19004_-74+19005delinsAC
ENST00000263080.2:c.692_693delinsGT (ASPA)	ENSP00000263080.2:p.Tyr231Cys
ENST00000456349.6:c.692_693delinsGT (ASPA)	ENSP00000409976.2:p.Tyr231Cys
ENST00000541913.5:c.-74+19004_-74+19005delinsAC (SPATA22)	ENSP00000441920.1:n.-74+19004_-74+19005delinsAC
ENST00000570318.1:c.-74+19203_-74+19204delinsAC (SPATA22)	ENSP00000459147.1:n.-74+19203_-74+19204delinsAC
XM_005256829.1:c.-74+19004_-74+19005delinsAC (SPATA22)	XP_005256886.1:n.-74+19004_-74+19005delinsAC
XM_005256830.1:c.-74+19004_-74+19005delinsAC (SPATA22)	XP_005256887.1:n.-74+19004_-74+19005delinsAC
XM_006721527.2:c.692_693delinsGT (ASPA)	XP_006721590.1:p.Tyr231Cys
XM_017024661.1:c.692_693delinsGT (ASPA)	XP_016880150.1:p.Tyr231Cys
XM_024450764.1:c.692_693delinsGT (ASPA)	XP_024306532.1:p.Tyr231Cys
XR_934026.1:n.867_868delinsGT (ASPA)
XR_934026.2:n.867_868delinsGT (ASPA)