Canonical Allele Identifier: CA2808237345

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3494789_3494790insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC , CM000679.2:g.3494789_3494790insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC	GRCh38
NC_000017.10:g.3398083_3398084insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC , CM000679.1:g.3398083_3398084insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC	GRCh37
NC_000017.9:g.3344833_3344834insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC	NCBI36
NG_008399.1:g.25680_25681insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC
NG_008399.2:g.26144_26145insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC (ASPA) MANE Select	ENSP00000263080.2:n.744+330_744+331insCGCTTTTCGATGTAGGTTTCGAC...
ENST00000263080.2:c.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC (ASPA)	ENSP00000263080.2:n.744+330_744+331insCGCTTTTCGATGTAGGTTTCGAC...
ENST00000456349.6:c.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC (ASPA)	ENSP00000409976.2:n.744+330_744+331insCGCTTTTCGATGTAGGTTTCGAC...
ENST00000541913.5:c.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCCACCAGCTCGTCGAAACCTACATCGAAAAGCG (SPATA22)	ENSP00000441920.1:n.-74+18622_-74+18623insGACAATATCGCCAACGAGT...
ENST00000570318.1:c.-74+18821_-74+18822insGACAATATCGCCAACGAGTTCCACCAGCTCGTCGAAACCTACATCGAAAAGCG (SPATA22)	ENSP00000459147.1:n.-74+18821_-74+18822insGACAATATCGCCAACGAGT...
NM_000049.2:c.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC (ASPA)	NP_000040.1:n.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTG...
NM_001128085.1:c.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC (ASPA)	NP_001121557.1:n.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAG...
XM_005256829.1:c.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCCACCAGCTCGTCGAAACCTACATCGAAAAGCG (SPATA22)	XP_005256886.1:n.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCC...
XM_005256830.1:c.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCCACCAGCTCGTCGAAACCTACATCGAAAAGCG (SPATA22)	XP_005256887.1:n.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCC...
XM_006721527.2:c.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC (ASPA)	XP_006721590.1:n.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAG...
XR_934026.1:n.919+330_919+331insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC (ASPA)
NM_001321336.1:c.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCCACCAGCTCGTCGAAACCTACATCGAAAAGCG (SPATA22)	NP_001308265.1:n.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCC...
NM_001321337.1:c.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCCACCAGCTCGTCGAAACCTACATCGAAAAGCG (SPATA22)	NP_001308266.1:n.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCC...
XM_017024661.1:c.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC (ASPA)	XP_016880150.1:n.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAG...
XM_024450764.1:c.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC (ASPA)	XP_024306532.1:n.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAG...
XR_934026.2:n.919+330_919+331insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC (ASPA)
NM_000049.3:c.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC (ASPA)	NP_000040.1:n.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTG...
NM_000049.4:c.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTGGTGGAACTCGTTGGCGATATTGTC (ASPA) MANE Select	NP_000040.1:n.744+330_744+331insCGCTTTTCGATGTAGGTTTCGACGAGCTG...
NM_001321336.2:c.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCCACCAGCTCGTCGAAACCTACATCGAAAAGCG (SPATA22)	NP_001308265.1:n.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCC...
NM_001321337.2:c.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCCACCAGCTCGTCGAAACCTACATCGAAAAGCG (SPATA22)	NP_001308266.1:n.-74+18622_-74+18623insGACAATATCGCCAACGAGTTCC...