Canonical Allele Identifier: CA287021240

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs869295416
• gnomAD v3: 17-3499453-TTGTAC-T
• gnomAD v4: 17-3499453-TTGTAC-T
• MyVariant Identifiers: chr17:g.3402748_3402752del (hg19) ; chr17:g.3499454_3499458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499455_3499459del , CM000679.2:g.3499455_3499459del	GRCh38
NC_000017.10:g.3402749_3402753del , CM000679.1:g.3402749_3402753del	GRCh37
NC_000017.9:g.3349499_3349503del	NCBI36
NG_008399.1:g.30346_30350del
NG_008399.2:g.30810_30814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*367_*371del (ASPA) MANE Select	ENSP00000263080.2:n.*367_*371del
ENST00000263080.2:c.*367_*371del (ASPA)	ENSP00000263080.2:n.*367_*371del
ENST00000541913.5:c.-74+13954_-74+13958del (SPATA22)	ENSP00000441920.1:n.-74+13954_-74+13958del
ENST00000570318.1:c.-74+14153_-74+14157del (SPATA22)	ENSP00000459147.1:n.-74+14153_-74+14157del
XM_005256829.1:c.-74+13954_-74+13958del (SPATA22)	XP_005256886.1:n.-74+13954_-74+13958del
XM_005256830.1:c.-74+13954_-74+13958del (SPATA22)	XP_005256887.1:n.-74+13954_-74+13958del
NM_001321336.1:c.-74+13954_-74+13958del (SPATA22)	NP_001308265.1:n.-74+13954_-74+13958del
NM_001321337.1:c.-74+13954_-74+13958del (SPATA22)	NP_001308266.1:n.-74+13954_-74+13958del
XM_017024661.1:c.*367_*371del (ASPA)	XP_016880150.1:n.*367_*371del
XM_024450764.1:c.*367_*371del (ASPA)	XP_024306532.1:n.*367_*371del
NM_000049.3:c.*367_*371del (ASPA)	NP_000040.1:n.*367_*371del
NM_000049.4:c.*367_*371del (ASPA) MANE Select	NP_000040.1:n.*367_*371del
NM_001321336.2:c.-74+13954_-74+13958del (SPATA22)	NP_001308265.1:n.-74+13954_-74+13958del
NM_001321337.2:c.-74+13954_-74+13958del (SPATA22)	NP_001308266.1:n.-74+13954_-74+13958del