Canonical Allele Identifier: CA2695234325
Gene: AMER1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192479del , CM000685.2:g.64192479del GRCh38
NC_000023.10:g.63412359del , CM000685.1:g.63412359del GRCh37
NC_000023.9:g.63329084del NCBI36
NG_021345.1:g.18266del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.808del MANE Select ENSP00000364003.4:p.Val270CysfsTer12
ENST00000330258.3:c.808del ENSP00000329117.3:p.Val270CysfsTer12
ENST00000374869.7:c.808del ENSP00000364003.3:p.Val270CysfsTer12
NM_152424.3:c.808del NP_689637.3:p.Val270CysfsTer12
XM_011530858.1:c.808del XP_011529160.1:p.Val270CysfsTer12
NM_152424.4:c.808del MANE Select NP_689637.3:p.Val270CysfsTer12
Search 100 bp 5'
Search 100 bp 3'