Canonical Allele Identifier: CA2243896768

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs2073951750
• gnomAD v4: 17-3498805-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3498806_3498807del , CM000679.2:g.3498806_3498807del	GRCh38
NC_000017.10:g.3402100_3402101del , CM000679.1:g.3402100_3402101del	GRCh37
NC_000017.9:g.3348850_3348851del	NCBI36
NG_008399.1:g.29697_29698del
NG_008399.2:g.30161_30162del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.745-85_745-84del (ASPA) MANE Select	ENSP00000263080.2:n.745-85_745-84del
ENST00000263080.2:c.745-85_745-84del (ASPA)	ENSP00000263080.2:n.745-85_745-84del
ENST00000456349.6:c.745-85_745-84del (ASPA)	ENSP00000409976.2:n.745-85_745-84del
ENST00000541913.5:c.-74+14605_-74+14606del (SPATA22)	ENSP00000441920.1:n.-74+14605_-74+14606de...
ENST00000570318.1:c.-74+14804_-74+14805del (SPATA22)	ENSP00000459147.1:n.-74+14804_-74+14805de...
NM_000049.2:c.745-85_745-84del (ASPA)	NP_000040.1:n.745-85_745-84del
NM_001128085.1:c.745-85_745-84del (ASPA)	NP_001121557.1:n.745-85_745-84del
XM_005256829.1:c.-74+14605_-74+14606del (SPATA22)	XP_005256886.1:n.-74+14605_-74+14606del
XM_005256830.1:c.-74+14605_-74+14606del (SPATA22)	XP_005256887.1:n.-74+14605_-74+14606del
XM_006721527.2:c.745-85_745-84del (ASPA)	XP_006721590.1:n.745-85_745-84del
XR_934026.1:n.1012-85_1012-84del (ASPA)
NM_001321336.1:c.-74+14605_-74+14606del (SPATA22)	NP_001308265.1:n.-74+14605_-74+14606del
NM_001321337.1:c.-74+14605_-74+14606del (SPATA22)	NP_001308266.1:n.-74+14605_-74+14606del
XM_017024661.1:c.745-85_745-84del (ASPA)	XP_016880150.1:n.745-85_745-84del
XM_024450764.1:c.745-85_745-84del (ASPA)	XP_024306532.1:n.745-85_745-84del
XR_934026.2:n.1012-85_1012-84del (ASPA)
NM_000049.3:c.745-85_745-84del (ASPA)	NP_000040.1:n.745-85_745-84del
NM_000049.4:c.745-85_745-84del (ASPA) MANE Select	NP_000040.1:n.745-85_745-84del
NM_001321336.2:c.-74+14605_-74+14606del (SPATA22)	NP_001308265.1:n.-74+14605_-74+14606del
NM_001321337.2:c.-74+14605_-74+14606del (SPATA22)	NP_001308266.1:n.-74+14605_-74+14606del