Canonical Allele Identifier: CA3273084255
Community Standard Title: NM_000049.4(ASPA):c.427_429delinsTTC (p.Ile143Phe)
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3481793_3481795delinsTTC , CM000679.2:g.3481793_3481795delinsTTC GRCh38
NC_000017.10:g.3385087_3385089delinsTTC , CM000679.1:g.3385087_3385089delinsTTC GRCh37
NC_000017.9:g.3331837_3331839delinsTTC NCBI36
NG_008399.1:g.12684_12686delinsTTC
NG_008399.2:g.13148_13150delinsTTC

Transcript Alleles

HGVS Amino-acid Change
NM_000049.4:c.427_429delinsTTC (ASPA) MANE Select NP_000040.1:p.Ile143Phe
ENST00000263080.3:c.427_429delinsTTC (ASPA) MANE Select ENSP00000263080.2:p.Ile143Phe
NM_000049.2:c.427_429delinsTTC (ASPA) NP_000040.1:p.Ile143Phe
NM_000049.3:c.427_429delinsTTC (ASPA) NP_000040.1:p.Ile143Phe
NM_001128085.1:c.427_429delinsTTC (ASPA) NP_001121557.1:p.Ile143Phe
NM_001321336.1:c.-73-12397_-73-12395delinsGAA (SPATA22) NP_001308265.1:n.-73-12397_-73-12395delinsGAA
NM_001321336.2:c.-73-12397_-73-12395delinsGAA (SPATA22) NP_001308265.1:n.-73-12397_-73-12395delinsGAA
NM_001321337.1:c.-73-12397_-73-12395delinsGAA (SPATA22) NP_001308266.1:n.-73-12397_-73-12395delinsGAA
NM_001321337.2:c.-73-12397_-73-12395delinsGAA (SPATA22) NP_001308266.1:n.-73-12397_-73-12395delinsGAA
ENST00000263080.2:c.427_429delinsTTC (ASPA) ENSP00000263080.2:p.Ile143Phe
ENST00000456349.6:c.427_429delinsTTC (ASPA) ENSP00000409976.2:p.Ile143Phe
ENST00000541913.5:c.-73-12397_-73-12395delinsGAA (SPATA22) ENSP00000441920.1:n.-73-12397_-73-12395delinsGAA
ENST00000570318.1:c.-73-12397_-73-12395delinsGAA (SPATA22) ENSP00000459147.1:n.-73-12397_-73-12395delinsGAA
ENST00000571278.1:c.*161_*163delinsTTC (ASPA) ENSP00000461358.1:n.*161_*163delinsTTC
XM_005256829.1:c.-73-12397_-73-12395delinsGAA (SPATA22) XP_005256886.1:n.-73-12397_-73-12395delinsGAA
XM_005256830.1:c.-73-12397_-73-12395delinsGAA (SPATA22) XP_005256887.1:n.-73-12397_-73-12395delinsGAA
XM_006721527.2:c.427_429delinsTTC (ASPA) XP_006721590.1:p.Ile143Phe
XM_017024661.1:c.427_429delinsTTC (ASPA) XP_016880150.1:p.Ile143Phe
XM_024450764.1:c.427_429delinsTTC (ASPA) XP_024306532.1:p.Ile143Phe
XR_934026.1:n.602_604delinsTTC (ASPA)
XR_934026.2:n.602_604delinsTTC (ASPA)
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