Canonical Allele Identifier: CA2433379230
Gene: AMER1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192027_64192044delinsATTGGGCCGTGGATACAT , CM000685.2:g.64192027_64192044delinsATTGGGCCGTGGATACAT GRCh38
NC_000023.10:g.63411907_63411924delinsATTGGGCCGTGGATACAT , CM000685.1:g.63411907_63411924delinsATTGGGCCGTGGATACAT GRCh37
NC_000023.9:g.63328632_63328649delinsATTGGGCCGTGGATACAT NCBI36
NG_021345.1:g.18701_18718delinsATGTATCCACGGCCCAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1243_1260delinsATGTATCCACGGCCCAAT MANE Select ENSP00000364003.4:p.Met415=
ENST00000330258.3:c.1243_1260delinsATGTATCCACGGCCCAAT ENSP00000329117.3:p.Met415=
ENST00000374869.7:c.1243_1260delinsATGTATCCACGGCCCAAT ENSP00000364003.3:p.Met415=
NM_152424.3:c.1243_1260delinsATGTATCCACGGCCCAAT NP_689637.3:p.Met415=
XM_011530858.1:c.1243_1260delinsATGTATCCACGGCCCAAT XP_011529160.1:p.Met415=
NM_152424.4:c.1243_1260delinsATGTATCCACGGCCCAAT MANE Select NP_689637.3:p.Met415=
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