Canonical Allele Identifier: CA2556929851
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3494631_3494632insACA , CM000679.2:g.3494631_3494632insACA GRCh38
NC_000017.10:g.3397925_3397926insACA , CM000679.1:g.3397925_3397926insACA GRCh37
NC_000017.9:g.3344675_3344676insACA NCBI36
NG_008399.1:g.25522_25523insACA
NG_008399.2:g.25986_25987insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263080.3:c.744+172_744+173insACA (ASPA) MANE Select ENSP00000263080.2:n.744+172_744+173insACA
ENST00000263080.2:c.744+172_744+173insACA (ASPA) ENSP00000263080.2:n.744+172_744+173insACA
ENST00000456349.6:c.744+172_744+173insACA (ASPA) ENSP00000409976.2:n.744+172_744+173insACA
ENST00000541913.5:c.-74+18780_-74+18781insTGT (SPATA22) ENSP00000441920.1:n.-74+18780_-74+18781insTGT
ENST00000570318.1:c.-74+18979_-74+18980insTGT (SPATA22) ENSP00000459147.1:n.-74+18979_-74+18980insTGT
NM_000049.2:c.744+172_744+173insACA (ASPA) NP_000040.1:n.744+172_744+173insACA
NM_001128085.1:c.744+172_744+173insACA (ASPA) NP_001121557.1:n.744+172_744+173insACA
XM_005256829.1:c.-74+18780_-74+18781insTGT (SPATA22) XP_005256886.1:n.-74+18780_-74+18781insTGT
XM_005256830.1:c.-74+18780_-74+18781insTGT (SPATA22) XP_005256887.1:n.-74+18780_-74+18781insTGT
XM_006721527.2:c.744+172_744+173insACA (ASPA) XP_006721590.1:n.744+172_744+173insACA
XR_934026.1:n.919+172_919+173insACA (ASPA)
NM_001321336.1:c.-74+18780_-74+18781insTGT (SPATA22) NP_001308265.1:n.-74+18780_-74+18781insTGT
NM_001321337.1:c.-74+18780_-74+18781insTGT (SPATA22) NP_001308266.1:n.-74+18780_-74+18781insTGT
XM_017024661.1:c.744+172_744+173insACA (ASPA) XP_016880150.1:n.744+172_744+173insACA
XM_024450764.1:c.744+172_744+173insACA (ASPA) XP_024306532.1:n.744+172_744+173insACA
XR_934026.2:n.919+172_919+173insACA (ASPA)
NM_000049.3:c.744+172_744+173insACA (ASPA) NP_000040.1:n.744+172_744+173insACA
NM_000049.4:c.744+172_744+173insACA (ASPA) MANE Select NP_000040.1:n.744+172_744+173insACA
NM_001321336.2:c.-74+18780_-74+18781insTGT (SPATA22) NP_001308265.1:n.-74+18780_-74+18781insTGT
NM_001321337.2:c.-74+18780_-74+18781insTGT (SPATA22) NP_001308266.1:n.-74+18780_-74+18781insTGT
Search 100 bp 5'
Search 100 bp 3'