Canonical Allele Identifier: CA2433379254
Gene: AMER1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192084_64192087delinsTTCC , CM000685.2:g.64192084_64192087delinsTTCC GRCh38
NC_000023.10:g.63411964_63411967delinsTTCC , CM000685.1:g.63411964_63411967delinsTTCC GRCh37
NC_000023.9:g.63328689_63328692delinsTTCC NCBI36
NG_021345.1:g.18658_18661delinsGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1200_1203delinsGGAA MANE Select ENSP00000364003.4:p.Glu400=
ENST00000330258.3:c.1200_1203delinsGGAA ENSP00000329117.3:p.Glu400=
ENST00000374869.7:c.1200_1203delinsGGAA ENSP00000364003.3:p.Glu400=
NM_152424.3:c.1200_1203delinsGGAA NP_689637.3:p.Glu400=
XM_011530858.1:c.1200_1203delinsGGAA XP_011529160.1:p.Glu400=
NM_152424.4:c.1200_1203delinsGGAA MANE Select NP_689637.3:p.Glu400=