Canonical Allele Identifier: CA2821494685
Gene: AMER1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192352_64192353insCACCCAACAC , CM000685.2:g.64192352_64192353insCACCCAACAC GRCh38
NC_000023.10:g.63412232_63412233insCACCCAACAC , CM000685.1:g.63412232_63412233insCACCCAACAC GRCh37
NC_000023.9:g.63328957_63328958insCACCCAACAC NCBI36
NG_021345.1:g.18392_18393insGTGTTGGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.934_935insGTGTTGGGTG MANE Select ENSP00000364003.4:p.Leu312CysfsTer15
ENST00000330258.3:c.934_935insGTGTTGGGTG ENSP00000329117.3:p.Leu312CysfsTer15
ENST00000374869.7:c.934_935insGTGTTGGGTG ENSP00000364003.3:p.Leu312CysfsTer15
NM_152424.3:c.934_935insGTGTTGGGTG NP_689637.3:p.Leu312CysfsTer15
XM_011530858.1:c.934_935insGTGTTGGGTG XP_011529160.1:p.Leu312CysfsTer15
NM_152424.4:c.934_935insGTGTTGGGTG MANE Select NP_689637.3:p.Leu312CysfsTer15
Search 100 bp 5'
Search 100 bp 3'