Canonical Allele Identifier: CA642470725
Gene: AMER1 HGNC NCBI

Linked Data

gnomAD v2: X-63412335-C-CT
MyVariant Identifiers: chrX:g.63412335_63412336insT (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192457dup , CM000685.2:g.64192457dup GRCh38
NC_000023.10:g.63412337dup , CM000685.1:g.63412337dup GRCh37
NC_000023.9:g.63329062dup NCBI36
NG_021345.1:g.18289dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.831dup MANE Select ENSP00000364003.4:p.Ala278SerfsTer3
ENST00000330258.3:c.831dup ENSP00000329117.3:p.Ala278SerfsTer3
ENST00000374869.7:c.831dup ENSP00000364003.3:p.Ala278SerfsTer3
NM_152424.3:c.831dup NP_689637.3:p.Ala278SerfsTer3
XM_011530858.1:c.831dup XP_011529160.1:p.Ala278SerfsTer3
NM_152424.4:c.831dup MANE Select NP_689637.3:p.Ala278SerfsTer3
Search 100 bp 5'
Search 100 bp 3'