Canonical Allele Identifier: CA2525952246

Gene: ASPA SPATA22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3481901_3481902insTCCTTTGCTAACTTATAAATTA , CM000679.2:g.3481901_3481902insTCCTTTGCTAACTTATAAATTA	GRCh38
NC_000017.10:g.3385195_3385196insTCCTTTGCTAACTTATAAATTA , CM000679.1:g.3385195_3385196insTCCTTTGCTAACTTATAAATTA	GRCh37
NC_000017.9:g.3331945_3331946insTCCTTTGCTAACTTATAAATTA	NCBI36
NG_008399.1:g.12792_12793insTCCTTTGCTAACTTATAAATTA
NG_008399.2:g.13256_13257insTCCTTTGCTAACTTATAAATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.432+103_432+104insTCCTTTGCTAACTTATAAATTA (ASPA) MANE Select	ENSP00000263080.2:n.432+103_432+104insTCCTTTGCTAACTTATAAATTA
ENST00000263080.2:c.432+103_432+104insTCCTTTGCTAACTTATAAATTA (ASPA)	ENSP00000263080.2:n.432+103_432+104insTCCTTTGCTAACTTATAAATTA
ENST00000456349.6:c.432+103_432+104insTCCTTTGCTAACTTATAAATTA (ASPA)	ENSP00000409976.2:n.432+103_432+104insTCCTTTGCTAACTTATAAATTA
ENST00000541913.5:c.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA (SPATA22)	ENSP00000441920.1:n.-73-12504_-73-12503insTAATTTATAAGTTAGCAAA...
ENST00000570318.1:c.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA (SPATA22)	ENSP00000459147.1:n.-73-12504_-73-12503insTAATTTATAAGTTAGCAAA...
ENST00000571278.1:c.*166+103_*166+104insTCCTTTGCTAACTTATAAATTA (ASPA)	ENSP00000461358.1:n.*166+103_*166+104insTCCTTTGCTAACTTATAAATT...
NM_000049.2:c.432+103_432+104insTCCTTTGCTAACTTATAAATTA (ASPA)	NP_000040.1:n.432+103_432+104insTCCTTTGCTAACTTATAAATTA
NM_001128085.1:c.432+103_432+104insTCCTTTGCTAACTTATAAATTA (ASPA)	NP_001121557.1:n.432+103_432+104insTCCTTTGCTAACTTATAAATTA
XM_005256829.1:c.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA (SPATA22)	XP_005256886.1:n.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA...
XM_005256830.1:c.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA (SPATA22)	XP_005256887.1:n.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA...
XM_006721527.2:c.432+103_432+104insTCCTTTGCTAACTTATAAATTA (ASPA)	XP_006721590.1:n.432+103_432+104insTCCTTTGCTAACTTATAAATTA
XR_934026.1:n.607+103_607+104insTCCTTTGCTAACTTATAAATTA (ASPA)
NM_001321336.1:c.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA (SPATA22)	NP_001308265.1:n.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA...
NM_001321337.1:c.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA (SPATA22)	NP_001308266.1:n.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA...
XM_017024661.1:c.432+103_432+104insTCCTTTGCTAACTTATAAATTA (ASPA)	XP_016880150.1:n.432+103_432+104insTCCTTTGCTAACTTATAAATTA
XM_024450764.1:c.432+103_432+104insTCCTTTGCTAACTTATAAATTA (ASPA)	XP_024306532.1:n.432+103_432+104insTCCTTTGCTAACTTATAAATTA
XR_934026.2:n.607+103_607+104insTCCTTTGCTAACTTATAAATTA (ASPA)
NM_000049.3:c.432+103_432+104insTCCTTTGCTAACTTATAAATTA (ASPA)	NP_000040.1:n.432+103_432+104insTCCTTTGCTAACTTATAAATTA
NM_000049.4:c.432+103_432+104insTCCTTTGCTAACTTATAAATTA (ASPA) MANE Select	NP_000040.1:n.432+103_432+104insTCCTTTGCTAACTTATAAATTA
NM_001321336.2:c.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA (SPATA22)	NP_001308265.1:n.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA...
NM_001321337.2:c.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA (SPATA22)	NP_001308266.1:n.-73-12504_-73-12503insTAATTTATAAGTTAGCAAAGGA...