Canonical Allele Identifier: CA2243892550

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3494332_3494333delinsAT , CM000679.2:g.3494332_3494333delinsAT	GRCh38
NC_000017.10:g.3397626_3397627delinsAT , CM000679.1:g.3397626_3397627delinsAT	GRCh37
NC_000017.9:g.3344376_3344377delinsAT	NCBI36
NG_008399.1:g.25223_25224delinsAT
NG_008399.2:g.25687_25688delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.635-18_635-17delinsAT (ASPA) MANE Select	ENSP00000263080.2:n.635-18_635-17delinsAT...
ENST00000263080.2:c.635-18_635-17delinsAT (ASPA)	ENSP00000263080.2:n.635-18_635-17delinsAT...
ENST00000456349.6:c.635-18_635-17delinsAT (ASPA)	ENSP00000409976.2:n.635-18_635-17delinsAT...
ENST00000541913.5:c.-74+19079_-74+19080delinsAT (SPATA22)	ENSP00000441920.1:n.-74+19079_-74+19080de...
ENST00000570318.1:c.-74+19278_-74+19279delinsAT (SPATA22)	ENSP00000459147.1:n.-74+19278_-74+19279de...
NM_000049.2:c.635-18_635-17delinsAT (ASPA)	NP_000040.1:n.635-18_635-17delinsAT
NM_001128085.1:c.635-18_635-17delinsAT (ASPA)	NP_001121557.1:n.635-18_635-17delinsAT
XM_005256829.1:c.-74+19079_-74+19080delinsAT (SPATA22)	XP_005256886.1:n.-74+19079_-74+19080delin...
XM_005256830.1:c.-74+19079_-74+19080delinsAT (SPATA22)	XP_005256887.1:n.-74+19079_-74+19080delin...
XM_006721527.2:c.635-18_635-17delinsAT (ASPA)	XP_006721590.1:n.635-18_635-17delinsAT
XR_934026.1:n.810-18_810-17delinsAT (ASPA)
NM_001321336.1:c.-74+19079_-74+19080delinsAT (SPATA22)	NP_001308265.1:n.-74+19079_-74+19080delin...
NM_001321337.1:c.-74+19079_-74+19080delinsAT (SPATA22)	NP_001308266.1:n.-74+19079_-74+19080delin...
XM_017024661.1:c.635-18_635-17delinsAT (ASPA)	XP_016880150.1:n.635-18_635-17delinsAT
XM_024450764.1:c.635-18_635-17delinsAT (ASPA)	XP_024306532.1:n.635-18_635-17delinsAT
XR_934026.2:n.810-18_810-17delinsAT (ASPA)
NM_000049.3:c.635-18_635-17delinsAT (ASPA)	NP_000040.1:n.635-18_635-17delinsAT
NM_000049.4:c.635-18_635-17delinsAT (ASPA) MANE Select	NP_000040.1:n.635-18_635-17delinsAT
NM_001321336.2:c.-74+19079_-74+19080delinsAT (SPATA22)	NP_001308265.1:n.-74+19079_-74+19080delin...
NM_001321337.2:c.-74+19079_-74+19080delinsAT (SPATA22)	NP_001308266.1:n.-74+19079_-74+19080delin...