Canonical Allele Identifier: CA2635397976

Gene: ASPA SPATA22

Linked Data

• gnomAD v4: 17-3499085-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499085_3499086insGA , CM000679.2:g.3499085_3499086insGA	GRCh38
NC_000017.10:g.3402379_3402380insGA , CM000679.1:g.3402379_3402380insGA	GRCh37
NC_000017.9:g.3349129_3349130insGA	NCBI36
NG_008399.1:g.29976_29977insGA
NG_008399.2:g.30440_30441insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.939_940insGA (ASPA) MANE Select	ENSP00000263080.2:p.Ter314AspextTer18
ENST00000263080.2:c.939_940insGA (ASPA)	ENSP00000263080.2:p.Ter314AspextTer18
ENST00000456349.6:c.939_940insGA (ASPA)	ENSP00000409976.2:p.Ter314AspextTer?
ENST00000541913.5:c.-74+14326_-74+14327insTC (SPATA22)	ENSP00000441920.1:n.-74+14326_-74+14327insTC
ENST00000570318.1:c.-74+14525_-74+14526insTC (SPATA22)	ENSP00000459147.1:n.-74+14525_-74+14526insTC
NM_000049.2:c.939_940insGA (ASPA)	NP_000040.1:p.Ter314AspextTer18
NM_001128085.1:c.939_940insGA (ASPA)	NP_001121557.1:p.Ter314AspextTer18
XM_005256829.1:c.-74+14326_-74+14327insTC (SPATA22)	XP_005256886.1:n.-74+14326_-74+14327insTC
XM_005256830.1:c.-74+14326_-74+14327insTC (SPATA22)	XP_005256887.1:n.-74+14326_-74+14327insTC
XM_006721527.2:c.939_940insGA (ASPA)	XP_006721590.1:p.Ter314AspextTer18
NM_001321336.1:c.-74+14326_-74+14327insTC (SPATA22)	NP_001308265.1:n.-74+14326_-74+14327insTC
NM_001321337.1:c.-74+14326_-74+14327insTC (SPATA22)	NP_001308266.1:n.-74+14326_-74+14327insTC
XM_017024661.1:c.939_940insGA (ASPA)	XP_016880150.1:p.Ter314AspextTer18
XM_024450764.1:c.939_940insGA (ASPA)	XP_024306532.1:p.Ter314AspextTer18
XR_934026.2:n.1206_1207insGA (ASPA)
NM_000049.3:c.939_940insGA (ASPA)	NP_000040.1:p.Ter314AspextTer18
NM_000049.4:c.939_940insGA (ASPA) MANE Select	NP_000040.1:p.Ter314AspextTer18
NM_001321336.2:c.-74+14326_-74+14327insTC (SPATA22)	NP_001308265.1:n.-74+14326_-74+14327insTC
NM_001321337.2:c.-74+14326_-74+14327insTC (SPATA22)	NP_001308266.1:n.-74+14326_-74+14327insTC