Canonical Allele Identifier: CA624536433

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs1259318246
• gnomAD v2: 17-3402685-GATATAT-G
• gnomAD v4: 17-3499391-GATATAT-G
• MyVariant Identifiers: chr17:g.3402686_3402691del (hg19) ; chr17:g.3499392_3499397del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499395_3499400del , CM000679.2:g.3499395_3499400del	GRCh38
NC_000017.10:g.3402689_3402694del , CM000679.1:g.3402689_3402694del	GRCh37
NC_000017.9:g.3349439_3349444del	NCBI36
NG_008399.1:g.30286_30291del
NG_008399.2:g.30750_30755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*307_*312del (ASPA) MANE Select	ENSP00000263080.2:n.*307_*312del
ENST00000263080.2:c.*307_*312del (ASPA)	ENSP00000263080.2:n.*307_*312del
ENST00000541913.5:c.-74+14015_-74+14020del (SPATA22)	ENSP00000441920.1:n.-74+14015_-74+14020del
ENST00000570318.1:c.-74+14214_-74+14219del (SPATA22)	ENSP00000459147.1:n.-74+14214_-74+14219del
NM_000049.2:c.*307_*312del (ASPA)	NP_000040.1:n.*307_*312del
NM_001128085.1:c.*307_*312del (ASPA)	NP_001121557.1:n.*307_*312del
XM_005256829.1:c.-74+14015_-74+14020del (SPATA22)	XP_005256886.1:n.-74+14015_-74+14020del
XM_005256830.1:c.-74+14015_-74+14020del (SPATA22)	XP_005256887.1:n.-74+14015_-74+14020del
XM_006721527.2:c.*307_*312del (ASPA)	XP_006721590.1:n.*307_*312del
NM_001321336.1:c.-74+14015_-74+14020del (SPATA22)	NP_001308265.1:n.-74+14015_-74+14020del
NM_001321337.1:c.-74+14015_-74+14020del (SPATA22)	NP_001308266.1:n.-74+14015_-74+14020del
XM_017024661.1:c.*307_*312del (ASPA)	XP_016880150.1:n.*307_*312del
XM_024450764.1:c.*307_*312del (ASPA)	XP_024306532.1:n.*307_*312del
NM_000049.3:c.*307_*312del (ASPA)	NP_000040.1:n.*307_*312del
NM_000049.4:c.*307_*312del (ASPA) MANE Select	NP_000040.1:n.*307_*312del
NM_001321336.2:c.-74+14015_-74+14020del (SPATA22)	NP_001308265.1:n.-74+14015_-74+14020del
NM_001321337.2:c.-74+14015_-74+14020del (SPATA22)	NP_001308266.1:n.-74+14015_-74+14020del