Canonical Allele Identifier: CA3273084742
Community Standard Title: NM_000049.4(ASPA):c.454_456delinsCGG (p.Cys152Arg)
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3483520_3483522delinsCGG , CM000679.2:g.3483520_3483522delinsCGG GRCh38
NC_000017.10:g.3386814_3386816delinsCGG , CM000679.1:g.3386814_3386816delinsCGG GRCh37
NC_000017.9:g.3333564_3333566delinsCGG NCBI36
NG_008399.1:g.14411_14413delinsCGG
NG_008399.2:g.14875_14877delinsCGG

Transcript Alleles

HGVS Amino-acid Change
NM_000049.4:c.454_456delinsCGG (ASPA) MANE Select NP_000040.1:p.Cys152Arg
ENST00000263080.3:c.454_456delinsCGG (ASPA) MANE Select ENSP00000263080.2:p.Cys152Arg
NM_000049.2:c.454_456delinsCGG (ASPA) NP_000040.1:p.Cys152Arg
NM_000049.3:c.454_456delinsCGG (ASPA) NP_000040.1:p.Cys152Arg
NM_001128085.1:c.454_456delinsCGG (ASPA) NP_001121557.1:p.Cys152Arg
NM_001321336.1:c.-73-14124_-73-14122delinsCCG (SPATA22) NP_001308265.1:n.-73-14124_-73-14122delinsCCG
NM_001321336.2:c.-73-14124_-73-14122delinsCCG (SPATA22) NP_001308265.1:n.-73-14124_-73-14122delinsCCG
NM_001321337.1:c.-73-14124_-73-14122delinsCCG (SPATA22) NP_001308266.1:n.-73-14124_-73-14122delinsCCG
NM_001321337.2:c.-73-14124_-73-14122delinsCCG (SPATA22) NP_001308266.1:n.-73-14124_-73-14122delinsCCG
ENST00000263080.2:c.454_456delinsCGG (ASPA) ENSP00000263080.2:p.Cys152Arg
ENST00000456349.6:c.454_456delinsCGG (ASPA) ENSP00000409976.2:p.Cys152Arg
ENST00000541913.5:c.-73-14124_-73-14122delinsCCG (SPATA22) ENSP00000441920.1:n.-73-14124_-73-14122delinsCCG
ENST00000570318.1:c.-73-14124_-73-14122delinsCCG (SPATA22) ENSP00000459147.1:n.-73-14124_-73-14122delinsCCG
ENST00000571278.1:c.*188_*190delinsCGG (ASPA) ENSP00000461358.1:n.*188_*190delinsCGG
XM_005256829.1:c.-73-14124_-73-14122delinsCCG (SPATA22) XP_005256886.1:n.-73-14124_-73-14122delinsCCG
XM_005256830.1:c.-73-14124_-73-14122delinsCCG (SPATA22) XP_005256887.1:n.-73-14124_-73-14122delinsCCG
XM_006721527.2:c.454_456delinsCGG (ASPA) XP_006721590.1:p.Cys152Arg
XM_017024661.1:c.454_456delinsCGG (ASPA) XP_016880150.1:p.Cys152Arg
XM_024450764.1:c.454_456delinsCGG (ASPA) XP_024306532.1:p.Cys152Arg
XR_934026.1:n.629_631delinsCGG (ASPA)
XR_934026.2:n.629_631delinsCGG (ASPA)
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