Canonical Allele Identifier: CA2635397956
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3498862_3498864del , CM000679.2:g.3498862_3498864del GRCh38
NC_000017.10:g.3402156_3402158del , CM000679.1:g.3402156_3402158del GRCh37
NC_000017.9:g.3348906_3348908del NCBI36
NG_008399.1:g.29753_29755del
NG_008399.2:g.30217_30219del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263080.3:c.745-29_745-27del (ASPA) MANE Select ENSP00000263080.2:n.745-29_745-27del
ENST00000263080.2:c.745-29_745-27del (ASPA) ENSP00000263080.2:n.745-29_745-27del
ENST00000456349.6:c.745-29_745-27del (ASPA) ENSP00000409976.2:n.745-29_745-27del
ENST00000541913.5:c.-74+14551_-74+14553del (SPATA22) ENSP00000441920.1:n.-74+14551_-74+14553del
ENST00000570318.1:c.-74+14750_-74+14752del (SPATA22) ENSP00000459147.1:n.-74+14750_-74+14752del
NM_000049.2:c.745-29_745-27del (ASPA) NP_000040.1:n.745-29_745-27del
NM_001128085.1:c.745-29_745-27del (ASPA) NP_001121557.1:n.745-29_745-27del
XM_005256829.1:c.-74+14551_-74+14553del (SPATA22) XP_005256886.1:n.-74+14551_-74+14553del
XM_005256830.1:c.-74+14551_-74+14553del (SPATA22) XP_005256887.1:n.-74+14551_-74+14553del
XM_006721527.2:c.745-29_745-27del (ASPA) XP_006721590.1:n.745-29_745-27del
XR_934026.1:n.1012-29_1012-27del (ASPA)
NM_001321336.1:c.-74+14551_-74+14553del (SPATA22) NP_001308265.1:n.-74+14551_-74+14553del
NM_001321337.1:c.-74+14551_-74+14553del (SPATA22) NP_001308266.1:n.-74+14551_-74+14553del
XM_017024661.1:c.745-29_745-27del (ASPA) XP_016880150.1:n.745-29_745-27del
XM_024450764.1:c.745-29_745-27del (ASPA) XP_024306532.1:n.745-29_745-27del
XR_934026.2:n.1012-29_1012-27del (ASPA)
NM_000049.3:c.745-29_745-27del (ASPA) NP_000040.1:n.745-29_745-27del
NM_000049.4:c.745-29_745-27del (ASPA) MANE Select NP_000040.1:n.745-29_745-27del
NM_001321336.2:c.-74+14551_-74+14553del (SPATA22) NP_001308265.1:n.-74+14551_-74+14553del
NM_001321337.2:c.-74+14551_-74+14553del (SPATA22) NP_001308266.1:n.-74+14551_-74+14553del
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