Canonical Allele Identifier: CA287021174

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs1056264045
• gnomAD v4: 17-3499232-CTTAAA-C
• MyVariant Identifiers: chr17:g.3402527_3402531del (hg19) ; chr17:g.3499233_3499237del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499237_3499241del , CM000679.2:g.3499237_3499241del	GRCh38
NC_000017.10:g.3402531_3402535del , CM000679.1:g.3402531_3402535del	GRCh37
NC_000017.9:g.3349281_3349285del	NCBI36
NG_008399.1:g.30128_30132del
NG_008399.2:g.30592_30596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*149_*153del (ASPA) MANE Select	ENSP00000263080.2:n.*149_*153del
ENST00000263080.2:c.*149_*153del (ASPA)	ENSP00000263080.2:n.*149_*153del
ENST00000541913.5:c.-74+14175_-74+14179del (SPATA22)	ENSP00000441920.1:n.-74+14175_-74+14179del
ENST00000570318.1:c.-74+14374_-74+14378del (SPATA22)	ENSP00000459147.1:n.-74+14374_-74+14378del
NM_000049.2:c.*149_*153del (ASPA)	NP_000040.1:n.*149_*153del
NM_001128085.1:c.*149_*153del (ASPA)	NP_001121557.1:n.*149_*153del
XM_005256829.1:c.-74+14175_-74+14179del (SPATA22)	XP_005256886.1:n.-74+14175_-74+14179del
XM_005256830.1:c.-74+14175_-74+14179del (SPATA22)	XP_005256887.1:n.-74+14175_-74+14179del
XM_006721527.2:c.*149_*153del (ASPA)	XP_006721590.1:n.*149_*153del
NM_001321336.1:c.-74+14175_-74+14179del (SPATA22)	NP_001308265.1:n.-74+14175_-74+14179del
NM_001321337.1:c.-74+14175_-74+14179del (SPATA22)	NP_001308266.1:n.-74+14175_-74+14179del
XM_017024661.1:c.*149_*153del (ASPA)	XP_016880150.1:n.*149_*153del
XM_024450764.1:c.*149_*153del (ASPA)	XP_024306532.1:n.*149_*153del
XR_934026.2:n.1358_1362del (ASPA)
NM_000049.3:c.*149_*153del (ASPA)	NP_000040.1:n.*149_*153del
NM_000049.4:c.*149_*153del (ASPA) MANE Select	NP_000040.1:n.*149_*153del
NM_001321336.2:c.-74+14175_-74+14179del (SPATA22)	NP_001308265.1:n.-74+14175_-74+14179del
NM_001321337.2:c.-74+14175_-74+14179del (SPATA22)	NP_001308266.1:n.-74+14175_-74+14179del