Canonical Allele Identifier: CA2243892659

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3494469_3494473delinsGTTCT , CM000679.2:g.3494469_3494473delinsGTTCT	GRCh38
NC_000017.10:g.3397763_3397767delinsGTTCT , CM000679.1:g.3397763_3397767delinsGTTCT	GRCh37
NC_000017.9:g.3344513_3344517delinsGTTCT	NCBI36
NG_008399.1:g.25360_25364delinsGTTCT
NG_008399.2:g.25824_25828delinsGTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.744+10_744+14delinsGTTCT (ASPA) MANE Select	ENSP00000263080.2:n.744+10_744+14delinsGTTCT
ENST00000263080.2:c.744+10_744+14delinsGTTCT (ASPA)	ENSP00000263080.2:n.744+10_744+14delinsGTTCT
ENST00000456349.6:c.744+10_744+14delinsGTTCT (ASPA)	ENSP00000409976.2:n.744+10_744+14delinsGTTCT
ENST00000541913.5:c.-74+18939_-74+18943delinsAGAAC (SPATA22)	ENSP00000441920.1:n.-74+18939_-74+18943delinsAGAAC
ENST00000570318.1:c.-74+19138_-74+19142delinsAGAAC (SPATA22)	ENSP00000459147.1:n.-74+19138_-74+19142delinsAGAAC
NM_000049.2:c.744+10_744+14delinsGTTCT (ASPA)	NP_000040.1:n.744+10_744+14delinsGTTCT
NM_001128085.1:c.744+10_744+14delinsGTTCT (ASPA)	NP_001121557.1:n.744+10_744+14delinsGTTCT
XM_005256829.1:c.-74+18939_-74+18943delinsAGAAC (SPATA22)	XP_005256886.1:n.-74+18939_-74+18943delinsAGAAC
XM_005256830.1:c.-74+18939_-74+18943delinsAGAAC (SPATA22)	XP_005256887.1:n.-74+18939_-74+18943delinsAGAAC
XM_006721527.2:c.744+10_744+14delinsGTTCT (ASPA)	XP_006721590.1:n.744+10_744+14delinsGTTCT
XR_934026.1:n.919+10_919+14delinsGTTCT (ASPA)
NM_001321336.1:c.-74+18939_-74+18943delinsAGAAC (SPATA22)	NP_001308265.1:n.-74+18939_-74+18943delinsAGAAC
NM_001321337.1:c.-74+18939_-74+18943delinsAGAAC (SPATA22)	NP_001308266.1:n.-74+18939_-74+18943delinsAGAAC
XM_017024661.1:c.744+10_744+14delinsGTTCT (ASPA)	XP_016880150.1:n.744+10_744+14delinsGTTCT
XM_024450764.1:c.744+10_744+14delinsGTTCT (ASPA)	XP_024306532.1:n.744+10_744+14delinsGTTCT
XR_934026.2:n.919+10_919+14delinsGTTCT (ASPA)
NM_000049.3:c.744+10_744+14delinsGTTCT (ASPA)	NP_000040.1:n.744+10_744+14delinsGTTCT
NM_000049.4:c.744+10_744+14delinsGTTCT (ASPA) MANE Select	NP_000040.1:n.744+10_744+14delinsGTTCT
NM_001321336.2:c.-74+18939_-74+18943delinsAGAAC (SPATA22)	NP_001308265.1:n.-74+18939_-74+18943delinsAGAAC
NM_001321337.2:c.-74+18939_-74+18943delinsAGAAC (SPATA22)	NP_001308266.1:n.-74+18939_-74+18943delinsAGAAC