Canonical Allele Identifier: CA2243896814
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

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