Canonical Allele Identifier: CA2635397974

Gene: ASPA SPATA22

Linked Data

• gnomAD v4: 17-3499070-TCGCTGCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499071_3499078del , CM000679.2:g.3499071_3499078del	GRCh38
NC_000017.10:g.3402365_3402372del , CM000679.1:g.3402365_3402372del	GRCh37
NC_000017.9:g.3349115_3349122del	NCBI36
NG_008399.1:g.29962_29969del
NG_008399.2:g.30426_30433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.925_932del (ASPA) MANE Select	ENSP00000263080.2:p.Arg309PhefsTer22
ENST00000263080.2:c.925_932del (ASPA)	ENSP00000263080.2:p.Arg309PhefsTer22
ENST00000456349.6:c.925_932del (ASPA)	ENSP00000409976.2:p.Arg309PhefsTer?
ENST00000541913.5:c.-74+14334_-74+14341del (SPATA22)	ENSP00000441920.1:n.-74+14334_-74+14341del
ENST00000570318.1:c.-74+14533_-74+14540del (SPATA22)	ENSP00000459147.1:n.-74+14533_-74+14540del
NM_000049.2:c.925_932del (ASPA)	NP_000040.1:p.Arg309PhefsTer22
NM_001128085.1:c.925_932del (ASPA)	NP_001121557.1:p.Arg309PhefsTer22
XM_005256829.1:c.-74+14334_-74+14341del (SPATA22)	XP_005256886.1:n.-74+14334_-74+14341del
XM_005256830.1:c.-74+14334_-74+14341del (SPATA22)	XP_005256887.1:n.-74+14334_-74+14341del
XM_006721527.2:c.925_932del (ASPA)	XP_006721590.1:p.Arg309PhefsTer22
NM_001321336.1:c.-74+14334_-74+14341del (SPATA22)	NP_001308265.1:n.-74+14334_-74+14341del
NM_001321337.1:c.-74+14334_-74+14341del (SPATA22)	NP_001308266.1:n.-74+14334_-74+14341del
XM_017024661.1:c.925_932del (ASPA)	XP_016880150.1:p.Arg309PhefsTer22
XM_024450764.1:c.925_932del (ASPA)	XP_024306532.1:p.Arg309PhefsTer22
XR_934026.2:n.1192_1199del (ASPA)
NM_000049.3:c.925_932del (ASPA)	NP_000040.1:p.Arg309PhefsTer22
NM_000049.4:c.925_932del (ASPA) MANE Select	NP_000040.1:p.Arg309PhefsTer22
NM_001321336.2:c.-74+14334_-74+14341del (SPATA22)	NP_001308265.1:n.-74+14334_-74+14341del
NM_001321337.2:c.-74+14334_-74+14341del (SPATA22)	NP_001308266.1:n.-74+14334_-74+14341del