Canonical Allele Identifier: CA2243896814

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3498855_3498860delinsAAATAT , CM000679.2:g.3498855_3498860delinsAAATAT	GRCh38
NC_000017.10:g.3402149_3402154delinsAAATAT , CM000679.1:g.3402149_3402154delinsAAATAT	GRCh37
NC_000017.9:g.3348899_3348904delinsAAATAT	NCBI36
NG_008399.1:g.29746_29751delinsAAATAT
NG_008399.2:g.30210_30215delinsAAATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.745-36_745-31delinsAAATAT (ASPA) MANE Select	ENSP00000263080.2:n.745-36_745-31delinsAAATAT
ENST00000263080.2:c.745-36_745-31delinsAAATAT (ASPA)	ENSP00000263080.2:n.745-36_745-31delinsAAATAT
ENST00000456349.6:c.745-36_745-31delinsAAATAT (ASPA)	ENSP00000409976.2:n.745-36_745-31delinsAAATAT
ENST00000541913.5:c.-74+14552_-74+14557delinsATATTT (SPATA22)	ENSP00000441920.1:n.-74+14552_-74+14557delinsATATTT
ENST00000570318.1:c.-74+14751_-74+14756delinsATATTT (SPATA22)	ENSP00000459147.1:n.-74+14751_-74+14756delinsATATTT
NM_000049.2:c.745-36_745-31delinsAAATAT (ASPA)	NP_000040.1:n.745-36_745-31delinsAAATAT
NM_001128085.1:c.745-36_745-31delinsAAATAT (ASPA)	NP_001121557.1:n.745-36_745-31delinsAAATAT
XM_005256829.1:c.-74+14552_-74+14557delinsATATTT (SPATA22)	XP_005256886.1:n.-74+14552_-74+14557delinsATATTT
XM_005256830.1:c.-74+14552_-74+14557delinsATATTT (SPATA22)	XP_005256887.1:n.-74+14552_-74+14557delinsATATTT
XM_006721527.2:c.745-36_745-31delinsAAATAT (ASPA)	XP_006721590.1:n.745-36_745-31delinsAAATAT
XR_934026.1:n.1012-36_1012-31delinsAAATAT (ASPA)
NM_001321336.1:c.-74+14552_-74+14557delinsATATTT (SPATA22)	NP_001308265.1:n.-74+14552_-74+14557delinsATATTT
NM_001321337.1:c.-74+14552_-74+14557delinsATATTT (SPATA22)	NP_001308266.1:n.-74+14552_-74+14557delinsATATTT
XM_017024661.1:c.745-36_745-31delinsAAATAT (ASPA)	XP_016880150.1:n.745-36_745-31delinsAAATAT
XM_024450764.1:c.745-36_745-31delinsAAATAT (ASPA)	XP_024306532.1:n.745-36_745-31delinsAAATAT
XR_934026.2:n.1012-36_1012-31delinsAAATAT (ASPA)
NM_000049.3:c.745-36_745-31delinsAAATAT (ASPA)	NP_000040.1:n.745-36_745-31delinsAAATAT
NM_000049.4:c.745-36_745-31delinsAAATAT (ASPA) MANE Select	NP_000040.1:n.745-36_745-31delinsAAATAT
NM_001321336.2:c.-74+14552_-74+14557delinsATATTT (SPATA22)	NP_001308265.1:n.-74+14552_-74+14557delinsATATTT
NM_001321337.2:c.-74+14552_-74+14557delinsATATTT (SPATA22)	NP_001308266.1:n.-74+14552_-74+14557delinsATATTT