Canonical Allele Identifier: CA645603307
Gene: AMER1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192188_64192198del , CM000685.2:g.64192188_64192198del GRCh38
NC_000023.10:g.63412068_63412078del , CM000685.1:g.63412068_63412078del GRCh37
NC_000023.9:g.63328793_63328803del NCBI36
NG_021345.1:g.18549_18559del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1091_1101del MANE Select ENSP00000364003.4:p.Thr364ArgfsTer10
ENST00000330258.3:c.1091_1101del ENSP00000329117.3:p.Thr364ArgfsTer10
ENST00000374869.7:c.1091_1101del ENSP00000364003.3:p.Thr364ArgfsTer10
NM_152424.3:c.1091_1101del NP_689637.3:p.Thr364ArgfsTer10
XM_011530858.1:c.1091_1101del XP_011529160.1:p.Thr364ArgfsTer10
NM_152424.4:c.1091_1101del MANE Select NP_689637.3:p.Thr364ArgfsTer10