Canonical Allele Identifier: CA2695202262
Gene: AMER1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192350dup , CM000685.2:g.64192350dup GRCh38
NC_000023.10:g.63412230dup , CM000685.1:g.63412230dup GRCh37
NC_000023.9:g.63328955dup NCBI36
NG_021345.1:g.18397dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.939dup MANE Select ENSP00000364003.4:p.Gly314TrpfsTer10
ENST00000330258.3:c.939dup ENSP00000329117.3:p.Gly314TrpfsTer10
ENST00000374869.7:c.939dup ENSP00000364003.3:p.Gly314TrpfsTer10
NM_152424.3:c.939dup NP_689637.3:p.Gly314TrpfsTer10
XM_011530858.1:c.939dup XP_011529160.1:p.Gly314TrpfsTer10
NM_152424.4:c.939dup MANE Select NP_689637.3:p.Gly314TrpfsTer10