Canonical Allele Identifier: CA2514163684
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3494619_3494620insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC , CM000679.2:g.3494619_3494620insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC GRCh38
NC_000017.10:g.3397913_3397914insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC , CM000679.1:g.3397913_3397914insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC GRCh37
NC_000017.9:g.3344663_3344664insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC NCBI36
NG_008399.1:g.25510_25511insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
NG_008399.2:g.25974_25975insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000263080.3:c.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (ASPA) MANE Select ENSP00000263080.2:n.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000263080.2:c.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (ASPA) ENSP00000263080.2:n.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000456349.6:c.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (ASPA) ENSP00000409976.2:n.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCC...
ENST00000541913.5:c.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (SPATA22) ENSP00000441920.1:n.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGG...
ENST00000570318.1:c.-74+18991_-74+18992insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (SPATA22) ENSP00000459147.1:n.-74+18991_-74+18992insGGGGGGGGGGGGGGGGGGG...
NM_000049.2:c.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (ASPA) NP_000040.1:n.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC...
NM_001128085.1:c.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (ASPA) NP_001121557.1:n.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCC...
XM_005256829.1:c.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (SPATA22) XP_005256886.1:n.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGG...
XM_005256830.1:c.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (SPATA22) XP_005256887.1:n.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGG...
XM_006721527.2:c.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (ASPA) XP_006721590.1:n.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCC...
XR_934026.1:n.919+160_919+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (ASPA)
NM_001321336.1:c.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (SPATA22) NP_001308265.1:n.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGG...
NM_001321337.1:c.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (SPATA22) NP_001308266.1:n.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGG...
XM_017024661.1:c.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (ASPA) XP_016880150.1:n.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCC...
XM_024450764.1:c.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (ASPA) XP_024306532.1:n.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCC...
XR_934026.2:n.919+160_919+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (ASPA)
NM_000049.3:c.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (ASPA) NP_000040.1:n.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC...
NM_000049.4:c.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (ASPA) MANE Select NP_000040.1:n.744+160_744+161insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC...
NM_001321336.2:c.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (SPATA22) NP_001308265.1:n.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGG...
NM_001321337.2:c.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (SPATA22) NP_001308266.1:n.-74+18792_-74+18793insGGGGGGGGGGGGGGGGGGGGGG...