Canonical Allele Identifier: CA2580092483

Gene: ASPA SPATA22

Linked Data

• ClinVar Variation Id: 1724197
• ClinVar RCV Id: RCV002306752

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3483522_3483525del , CM000679.2:g.3483522_3483525del	GRCh38
NC_000017.10:g.3386816_3386819del , CM000679.1:g.3386816_3386819del	GRCh37
NC_000017.9:g.3333566_3333569del	NCBI36
NG_008399.1:g.14413_14416del
NG_008399.2:g.14877_14880del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.456_459del (ASPA) MANE Select	ENSP00000263080.2:p.Cys152TrpfsTer4
ENST00000263080.2:c.456_459del (ASPA)	ENSP00000263080.2:p.Cys152TrpfsTer4
ENST00000456349.6:c.456_459del (ASPA)	ENSP00000409976.2:p.Cys152TrpfsTer4
ENST00000541913.5:c.-73-14127_-73-14124del (SPATA22)	ENSP00000441920.1:n.-73-14127_-73-14124del
ENST00000570318.1:c.-73-14127_-73-14124del (SPATA22)	ENSP00000459147.1:n.-73-14127_-73-14124del
ENST00000571278.1:c.*190_*193del (ASPA)	ENSP00000461358.1:n.*190_*193del
NM_000049.2:c.456_459del (ASPA)	NP_000040.1:p.Cys152TrpfsTer4
NM_001128085.1:c.456_459del (ASPA)	NP_001121557.1:p.Cys152TrpfsTer4
XM_005256829.1:c.-73-14127_-73-14124del (SPATA22)	XP_005256886.1:n.-73-14127_-73-14124del
XM_005256830.1:c.-73-14127_-73-14124del (SPATA22)	XP_005256887.1:n.-73-14127_-73-14124del
XM_006721527.2:c.456_459del (ASPA)	XP_006721590.1:p.Cys152TrpfsTer4
XR_934026.1:n.631_634del (ASPA)
NM_001321336.1:c.-73-14127_-73-14124del (SPATA22)	NP_001308265.1:n.-73-14127_-73-14124del
NM_001321337.1:c.-73-14127_-73-14124del (SPATA22)	NP_001308266.1:n.-73-14127_-73-14124del
XM_017024661.1:c.456_459del (ASPA)	XP_016880150.1:p.Cys152TrpfsTer4
XM_024450764.1:c.456_459del (ASPA)	XP_024306532.1:p.Cys152TrpfsTer4
XR_934026.2:n.631_634del (ASPA)
NM_000049.3:c.456_459del (ASPA)	NP_000040.1:p.Cys152TrpfsTer4
NM_000049.4:c.456_459del (ASPA) MANE Select	NP_000040.1:p.Cys152TrpfsTer4
NM_001321336.2:c.-73-14127_-73-14124del (SPATA22)	NP_001308265.1:n.-73-14127_-73-14124del
NM_001321337.2:c.-73-14127_-73-14124del (SPATA22)	NP_001308266.1:n.-73-14127_-73-14124del