Canonical Allele Identifier: CA2243897038

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3498975_3498976delinsAC , CM000679.2:g.3498975_3498976delinsAC	GRCh38
NC_000017.10:g.3402269_3402270delinsAC , CM000679.1:g.3402269_3402270delinsAC	GRCh37
NC_000017.9:g.3349019_3349020delinsAC	NCBI36
NG_008399.1:g.29866_29867delinsAC
NG_008399.2:g.30330_30331delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.829_830delinsAC (ASPA) MANE Select	ENSP00000263080.2:p.Thr277=
ENST00000263080.2:c.829_830delinsAC (ASPA)	ENSP00000263080.2:p.Thr277=
ENST00000456349.6:c.829_830delinsAC (ASPA)	ENSP00000409976.2:p.Thr277=
ENST00000541913.5:c.-74+14436_-74+14437delinsGT (SPATA22)	ENSP00000441920.1:n.-74+14436_-74+14437delinsGT
ENST00000570318.1:c.-74+14635_-74+14636delinsGT (SPATA22)	ENSP00000459147.1:n.-74+14635_-74+14636delinsGT
NM_000049.2:c.829_830delinsAC (ASPA)	NP_000040.1:p.Thr277=
NM_001128085.1:c.829_830delinsAC (ASPA)	NP_001121557.1:p.Thr277=
XM_005256829.1:c.-74+14436_-74+14437delinsGT (SPATA22)	XP_005256886.1:n.-74+14436_-74+14437delinsGT
XM_005256830.1:c.-74+14436_-74+14437delinsGT (SPATA22)	XP_005256887.1:n.-74+14436_-74+14437delinsGT
XM_006721527.2:c.829_830delinsAC (ASPA)	XP_006721590.1:p.Thr277=
XR_934026.1:n.1096_1097delinsAC (ASPA)
NM_001321336.1:c.-74+14436_-74+14437delinsGT (SPATA22)	NP_001308265.1:n.-74+14436_-74+14437delinsGT
NM_001321337.1:c.-74+14436_-74+14437delinsGT (SPATA22)	NP_001308266.1:n.-74+14436_-74+14437delinsGT
XM_017024661.1:c.829_830delinsAC (ASPA)	XP_016880150.1:p.Thr277=
XM_024450764.1:c.829_830delinsAC (ASPA)	XP_024306532.1:p.Thr277=
XR_934026.2:n.1096_1097delinsAC (ASPA)
NM_000049.3:c.829_830delinsAC (ASPA)	NP_000040.1:p.Thr277=
NM_000049.4:c.829_830delinsAC (ASPA) MANE Select	NP_000040.1:p.Thr277=
NM_001321336.2:c.-74+14436_-74+14437delinsGT (SPATA22)	NP_001308265.1:n.-74+14436_-74+14437delinsGT
NM_001321337.2:c.-74+14436_-74+14437delinsGT (SPATA22)	NP_001308266.1:n.-74+14436_-74+14437delinsGT