Canonical Allele Identifier: CA130038
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37045
ClinVar RCV Id: RCV000030705
dbSNP Id: rs398122877
MyVariant Identifiers: chrX:g.63411900del (hg19) chrX:g.64192020del (hg38)
PubMed: PMID:9327263 PMID:20209645
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192021del , CM000685.2:g.64192021del GRCh38
NC_000023.10:g.63411901del , CM000685.1:g.63411901del GRCh37
NC_000023.9:g.63328626del NCBI36
NG_021345.1:g.18725del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1267del MANE Select ENSP00000364003.4:p.Leu423TrpfsTer26
ENST00000330258.3:c.1267del ENSP00000329117.3:p.Leu423TrpfsTer26
ENST00000374869.7:c.1267del ENSP00000364003.3:p.Leu423TrpfsTer26
NM_152424.3:c.1267del NP_689637.3:p.Leu423TrpfsTer26
XM_011530858.1:c.1267del XP_011529160.1:p.Leu423TrpfsTer26
NM_152424.4:c.1267del MANE Select NP_689637.3:p.Leu423TrpfsTer26
Search 100 bp 5'
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