Canonical Allele Identifier: CA2433379426
Gene: AMER1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192548_64192551delinsGAGA , CM000685.2:g.64192548_64192551delinsGAGA GRCh38
NC_000023.10:g.63412428_63412431delinsGAGA , CM000685.1:g.63412428_63412431delinsGAGA GRCh37
NC_000023.9:g.63329153_63329156delinsGAGA NCBI36
NG_021345.1:g.18194_18197delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.736_739delinsTCTC MANE Select ENSP00000364003.4:p.Ser246=
ENST00000330258.3:c.736_739delinsTCTC ENSP00000329117.3:p.Ser246=
ENST00000374869.7:c.736_739delinsTCTC ENSP00000364003.3:p.Ser246=
NM_152424.3:c.736_739delinsTCTC NP_689637.3:p.Ser246=
XM_011530858.1:c.736_739delinsTCTC XP_011529160.1:p.Ser246=
NM_152424.4:c.736_739delinsTCTC MANE Select NP_689637.3:p.Ser246=
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