Canonical Allele Identifier: CA2589882765

Gene: ASPA SPATA22

Linked Data

• gnomAD v3: 17-3494213-AGG-A
• gnomAD v4: 17-3494213-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3494214_3494215del , CM000679.2:g.3494214_3494215del	GRCh38
NC_000017.10:g.3397508_3397509del , CM000679.1:g.3397508_3397509del	GRCh37
NC_000017.9:g.3344258_3344259del	NCBI36
NG_008399.1:g.25105_25106del
NG_008399.2:g.25569_25570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.635-136_635-135del (ASPA) MANE Select	ENSP00000263080.2:n.635-136_635-135del
ENST00000263080.2:c.635-136_635-135del (ASPA)	ENSP00000263080.2:n.635-136_635-135del
ENST00000456349.6:c.635-136_635-135del (ASPA)	ENSP00000409976.2:n.635-136_635-135del
ENST00000541913.5:c.-74+19197_-74+19198del (SPATA22)	ENSP00000441920.1:n.-74+19197_-74+19198del
ENST00000570318.1:c.-74+19396_-74+19397del (SPATA22)	ENSP00000459147.1:n.-74+19396_-74+19397del
NM_000049.2:c.635-136_635-135del (ASPA)	NP_000040.1:n.635-136_635-135del
NM_001128085.1:c.635-136_635-135del (ASPA)	NP_001121557.1:n.635-136_635-135del
XM_005256829.1:c.-74+19197_-74+19198del (SPATA22)	XP_005256886.1:n.-74+19197_-74+19198del
XM_005256830.1:c.-74+19197_-74+19198del (SPATA22)	XP_005256887.1:n.-74+19197_-74+19198del
XM_006721527.2:c.635-136_635-135del (ASPA)	XP_006721590.1:n.635-136_635-135del
XR_934026.1:n.810-136_810-135del (ASPA)
NM_001321336.1:c.-74+19197_-74+19198del (SPATA22)	NP_001308265.1:n.-74+19197_-74+19198del
NM_001321337.1:c.-74+19197_-74+19198del (SPATA22)	NP_001308266.1:n.-74+19197_-74+19198del
XM_017024661.1:c.635-136_635-135del (ASPA)	XP_016880150.1:n.635-136_635-135del
XM_024450764.1:c.635-136_635-135del (ASPA)	XP_024306532.1:n.635-136_635-135del
XR_934026.2:n.810-136_810-135del (ASPA)
NM_000049.3:c.635-136_635-135del (ASPA)	NP_000040.1:n.635-136_635-135del
NM_000049.4:c.635-136_635-135del (ASPA) MANE Select	NP_000040.1:n.635-136_635-135del
NM_001321336.2:c.-74+19197_-74+19198del (SPATA22)	NP_001308265.1:n.-74+19197_-74+19198del
NM_001321337.2:c.-74+19197_-74+19198del (SPATA22)	NP_001308266.1:n.-74+19197_-74+19198del