Canonical Allele Identifier: CA2554734632

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3494632_3494633insCAT , CM000679.2:g.3494632_3494633insCAT	GRCh38
NC_000017.10:g.3397926_3397927insCAT , CM000679.1:g.3397926_3397927insCAT	GRCh37
NC_000017.9:g.3344676_3344677insCAT	NCBI36
NG_008399.1:g.25523_25524insCAT
NG_008399.2:g.25987_25988insCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.744+173_744+174insCAT (ASPA) MANE Select	ENSP00000263080.2:n.744+173_744+174insCAT
ENST00000263080.2:c.744+173_744+174insCAT (ASPA)	ENSP00000263080.2:n.744+173_744+174insCAT
ENST00000456349.6:c.744+173_744+174insCAT (ASPA)	ENSP00000409976.2:n.744+173_744+174insCAT
ENST00000541913.5:c.-74+18779_-74+18780insATG (SPATA22)	ENSP00000441920.1:n.-74+18779_-74+18780insATG
ENST00000570318.1:c.-74+18978_-74+18979insATG (SPATA22)	ENSP00000459147.1:n.-74+18978_-74+18979insATG
NM_000049.2:c.744+173_744+174insCAT (ASPA)	NP_000040.1:n.744+173_744+174insCAT
NM_001128085.1:c.744+173_744+174insCAT (ASPA)	NP_001121557.1:n.744+173_744+174insCAT
XM_005256829.1:c.-74+18779_-74+18780insATG (SPATA22)	XP_005256886.1:n.-74+18779_-74+18780insATG
XM_005256830.1:c.-74+18779_-74+18780insATG (SPATA22)	XP_005256887.1:n.-74+18779_-74+18780insATG
XM_006721527.2:c.744+173_744+174insCAT (ASPA)	XP_006721590.1:n.744+173_744+174insCAT
XR_934026.1:n.919+173_919+174insCAT (ASPA)
NM_001321336.1:c.-74+18779_-74+18780insATG (SPATA22)	NP_001308265.1:n.-74+18779_-74+18780insATG
NM_001321337.1:c.-74+18779_-74+18780insATG (SPATA22)	NP_001308266.1:n.-74+18779_-74+18780insATG
XM_017024661.1:c.744+173_744+174insCAT (ASPA)	XP_016880150.1:n.744+173_744+174insCAT
XM_024450764.1:c.744+173_744+174insCAT (ASPA)	XP_024306532.1:n.744+173_744+174insCAT
XR_934026.2:n.919+173_919+174insCAT (ASPA)
NM_000049.3:c.744+173_744+174insCAT (ASPA)	NP_000040.1:n.744+173_744+174insCAT
NM_000049.4:c.744+173_744+174insCAT (ASPA) MANE Select	NP_000040.1:n.744+173_744+174insCAT
NM_001321336.2:c.-74+18779_-74+18780insATG (SPATA22)	NP_001308265.1:n.-74+18779_-74+18780insATG
NM_001321337.2:c.-74+18779_-74+18780insATG (SPATA22)	NP_001308266.1:n.-74+18779_-74+18780insATG