Canonical Allele Identifier: CA517041038
Gene: AMER1 HGNC NCBI

Linked Data

COSMIC: COSM250064
MyVariant Identifiers: chrX:g.63412300del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192420del , CM000685.2:g.64192420del GRCh38
NC_000023.10:g.63412300del , CM000685.1:g.63412300del GRCh37
NC_000023.9:g.63329025del NCBI36
NG_021345.1:g.18325del

Transcript Alleles

HGVS Amino-acid change
ENST00000374869.8:c.867del MANE Select ENSP00000364003.4:p.Glu291ArgfsTer3
ENST00000330258.3:c.867del ENSP00000329117.3:p.Glu291ArgfsTer3
ENST00000374869.7:c.867del ENSP00000364003.3:p.Glu291ArgfsTer3
NM_152424.3:c.867del NP_689637.3:p.Glu291ArgfsTer3
XM_011530858.1:c.867del XP_011529160.1:p.Glu291ArgfsTer3
NM_152424.4:c.867del MANE Select NP_689637.3:p.Glu291ArgfsTer3
Search 100 bp 5'
Search 100 bp 3'