Canonical Allele Identifier: CA2635397979

Gene: ASPA SPATA22

Linked Data

• gnomAD v4: 17-3499092-T-TCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499093_3499094insTAC , CM000679.2:g.3499093_3499094insTAC	GRCh38
NC_000017.10:g.3402387_3402388insTAC , CM000679.1:g.3402387_3402388insTAC	GRCh37
NC_000017.9:g.3349137_3349138insTAC	NCBI36
NG_008399.1:g.29984_29985insTAC
NG_008399.2:g.30448_30449insTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*5_*6insTAC (ASPA) MANE Select	ENSP00000263080.2:n.*5_*6insTAC
ENST00000263080.2:c.*5_*6insTAC (ASPA)	ENSP00000263080.2:n.*5_*6insTAC
ENST00000541913.5:c.-74+14319_-74+14320insTAG (SPATA22)	ENSP00000441920.1:n.-74+14319_-74+14320insTAG
ENST00000570318.1:c.-74+14518_-74+14519insTAG (SPATA22)	ENSP00000459147.1:n.-74+14518_-74+14519insTAG
NM_000049.2:c.*5_*6insTAC (ASPA)	NP_000040.1:n.*5_*6insTAC
NM_001128085.1:c.*5_*6insTAC (ASPA)	NP_001121557.1:n.*5_*6insTAC
XM_005256829.1:c.-74+14319_-74+14320insTAG (SPATA22)	XP_005256886.1:n.-74+14319_-74+14320insTAG
XM_005256830.1:c.-74+14319_-74+14320insTAG (SPATA22)	XP_005256887.1:n.-74+14319_-74+14320insTAG
XM_006721527.2:c.*5_*6insTAC (ASPA)	XP_006721590.1:n.*5_*6insTAC
NM_001321336.1:c.-74+14319_-74+14320insTAG (SPATA22)	NP_001308265.1:n.-74+14319_-74+14320insTAG
NM_001321337.1:c.-74+14319_-74+14320insTAG (SPATA22)	NP_001308266.1:n.-74+14319_-74+14320insTAG
XM_017024661.1:c.*5_*6insTAC (ASPA)	XP_016880150.1:n.*5_*6insTAC
XM_024450764.1:c.*5_*6insTAC (ASPA)	XP_024306532.1:n.*5_*6insTAC
XR_934026.2:n.1214_1215insTAC (ASPA)
NM_000049.3:c.*5_*6insTAC (ASPA)	NP_000040.1:n.*5_*6insTAC
NM_000049.4:c.*5_*6insTAC (ASPA) MANE Select	NP_000040.1:n.*5_*6insTAC
NM_001321336.2:c.-74+14319_-74+14320insTAG (SPATA22)	NP_001308265.1:n.-74+14319_-74+14320insTAG
NM_001321337.2:c.-74+14319_-74+14320insTAG (SPATA22)	NP_001308266.1:n.-74+14319_-74+14320insTAG