Canonical Allele Identifier: CA2521153384

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499391_3499392insGAAACACTTCTTTGA , CM000679.2:g.3499391_3499392insGAAACACTTCTTTGA	GRCh38
NC_000017.10:g.3402685_3402686insGAAACACTTCTTTGA , CM000679.1:g.3402685_3402686insGAAACACTTCTTTGA	GRCh37
NC_000017.9:g.3349435_3349436insGAAACACTTCTTTGA	NCBI36
NG_008399.1:g.30282_30283insGAAACACTTCTTTGA
NG_008399.2:g.30746_30747insGAAACACTTCTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.*303_*304insGAAACACTTCTTTGA (ASPA) MANE Select	ENSP00000263080.2:n.*303_*304insGAAACACTTCTTTGA
ENST00000263080.2:c.*303_*304insGAAACACTTCTTTGA (ASPA)	ENSP00000263080.2:n.*303_*304insGAAACACTTCTTTGA
ENST00000541913.5:c.-74+14020_-74+14021insTCAAAGAAGTGTTTC (SPATA22)	ENSP00000441920.1:n.-74+14020_-74+14021insTCAAAGAAGTGTTTC
ENST00000570318.1:c.-74+14219_-74+14220insTCAAAGAAGTGTTTC (SPATA22)	ENSP00000459147.1:n.-74+14219_-74+14220insTCAAAGAAGTGTTTC
NM_000049.2:c.*303_*304insGAAACACTTCTTTGA (ASPA)	NP_000040.1:n.*303_*304insGAAACACTTCTTTGA
NM_001128085.1:c.*303_*304insGAAACACTTCTTTGA (ASPA)	NP_001121557.1:n.*303_*304insGAAACACTTCTTTGA
XM_005256829.1:c.-74+14020_-74+14021insTCAAAGAAGTGTTTC (SPATA22)	XP_005256886.1:n.-74+14020_-74+14021insTCAAAGAAGTGTTTC
XM_005256830.1:c.-74+14020_-74+14021insTCAAAGAAGTGTTTC (SPATA22)	XP_005256887.1:n.-74+14020_-74+14021insTCAAAGAAGTGTTTC
XM_006721527.2:c.*303_*304insGAAACACTTCTTTGA (ASPA)	XP_006721590.1:n.*303_*304insGAAACACTTCTTTGA
NM_001321336.1:c.-74+14020_-74+14021insTCAAAGAAGTGTTTC (SPATA22)	NP_001308265.1:n.-74+14020_-74+14021insTCAAAGAAGTGTTTC
NM_001321337.1:c.-74+14020_-74+14021insTCAAAGAAGTGTTTC (SPATA22)	NP_001308266.1:n.-74+14020_-74+14021insTCAAAGAAGTGTTTC
XM_017024661.1:c.*303_*304insGAAACACTTCTTTGA (ASPA)	XP_016880150.1:n.*303_*304insGAAACACTTCTTTGA
XM_024450764.1:c.*303_*304insGAAACACTTCTTTGA (ASPA)	XP_024306532.1:n.*303_*304insGAAACACTTCTTTGA
NM_000049.3:c.*303_*304insGAAACACTTCTTTGA (ASPA)	NP_000040.1:n.*303_*304insGAAACACTTCTTTGA
NM_000049.4:c.*303_*304insGAAACACTTCTTTGA (ASPA) MANE Select	NP_000040.1:n.*303_*304insGAAACACTTCTTTGA
NM_001321336.2:c.-74+14020_-74+14021insTCAAAGAAGTGTTTC (SPATA22)	NP_001308265.1:n.-74+14020_-74+14021insTCAAAGAAGTGTTTC
NM_001321337.2:c.-74+14020_-74+14021insTCAAAGAAGTGTTTC (SPATA22)	NP_001308266.1:n.-74+14020_-74+14021insTCAAAGAAGTGTTTC