Canonical Allele Identifier: CA517041401
Gene: AMER1 HGNC NCBI

Linked Data

COSMIC: COSM28713
MyVariant Identifiers: chrX:g.63412083del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192204del , CM000685.2:g.64192204del GRCh38
NC_000023.10:g.63412084del , CM000685.1:g.63412084del GRCh37
NC_000023.9:g.63328809del NCBI36
NG_021345.1:g.18542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1084del MANE Select ENSP00000364003.4:p.Leu362TrpfsTer2
ENST00000330258.3:c.1084del ENSP00000329117.3:p.Leu362TrpfsTer2
ENST00000374869.7:c.1084del ENSP00000364003.3:p.Leu362TrpfsTer2
NM_152424.3:c.1084del NP_689637.3:p.Leu362TrpfsTer2
XM_011530858.1:c.1084del XP_011529160.1:p.Leu362TrpfsTer2
NM_152424.4:c.1084del MANE Select NP_689637.3:p.Leu362TrpfsTer2