Canonical Allele Identifier: CA8289028

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs775443252
• ExAC: 17:3402141 G / GA
• gnomAD v2: 17-3402141-G-GA
• MyVariant Identifiers: chr17:g.3402141_3402142insA (hg19) ; chr17:g.3498847_3498848insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3498852dup , CM000679.2:g.3498852dup	GRCh38
NC_000017.10:g.3402146dup , CM000679.1:g.3402146dup	GRCh37
NC_000017.9:g.3348896dup	NCBI36
NG_008399.1:g.29743dup
NG_008399.2:g.30207dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.745-39dup (ASPA) MANE Select	ENSP00000263080.2:n.745-39dup
ENST00000263080.2:c.745-39dup (ASPA)	ENSP00000263080.2:n.745-39dup
ENST00000456349.6:c.745-39dup (ASPA)	ENSP00000409976.2:n.745-39dup
ENST00000541913.5:c.-74+14564dup (SPATA22)	ENSP00000441920.1:n.-74+14564dup
ENST00000570318.1:c.-74+14763dup (SPATA22)	ENSP00000459147.1:n.-74+14763dup
NM_000049.2:c.745-39dup (ASPA)	NP_000040.1:n.745-39dup
NM_001128085.1:c.745-39dup (ASPA)	NP_001121557.1:n.745-39dup
XM_005256829.1:c.-74+14564dup (SPATA22)	XP_005256886.1:n.-74+14564dup
XM_005256830.1:c.-74+14564dup (SPATA22)	XP_005256887.1:n.-74+14564dup
XM_006721527.2:c.745-39dup (ASPA)	XP_006721590.1:n.745-39dup
XR_934026.1:n.1012-39dup (ASPA)
NM_001321336.1:c.-74+14564dup (SPATA22)	NP_001308265.1:n.-74+14564dup
NM_001321337.1:c.-74+14564dup (SPATA22)	NP_001308266.1:n.-74+14564dup
XM_017024661.1:c.745-39dup (ASPA)	XP_016880150.1:n.745-39dup
XM_024450764.1:c.745-39dup (ASPA)	XP_024306532.1:n.745-39dup
XR_934026.2:n.1012-39dup (ASPA)
NM_000049.3:c.745-39dup (ASPA)	NP_000040.1:n.745-39dup
NM_000049.4:c.745-39dup (ASPA) MANE Select	NP_000040.1:n.745-39dup
NM_001321336.2:c.-74+14564dup (SPATA22)	NP_001308265.1:n.-74+14564dup
NM_001321337.2:c.-74+14564dup (SPATA22)	NP_001308266.1:n.-74+14564dup