Canonical Allele Identifier: CA1133644553
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1442662
ClinVar RCV Id: RCV001969905
dbSNP Id: rs1930259994
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192093_64192116dup , CM000685.2:g.64192093_64192116dup GRCh38
NC_000023.10:g.63411973_63411996dup , CM000685.1:g.63411973_63411996dup GRCh37
NC_000023.9:g.63328698_63328721dup NCBI36
NG_021345.1:g.18643_18666dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1185_1208dup MANE Select ENSP00000364003.4:p.Glu402_Asp403insGluGluValLysGluGluGluGlu
ENST00000330258.3:c.1185_1208dup ENSP00000329117.3:p.Glu402_Asp403insGluGluValLysGluGluGluGlu
ENST00000374869.7:c.1185_1208dup ENSP00000364003.3:p.Glu402_Asp403insGluGluValLysGluGluGluGlu
NM_152424.3:c.1185_1208dup NP_689637.3:p.Glu402_Asp403insGluGluValLysGluGluGluGlu
XM_011530858.1:c.1185_1208dup XP_011529160.1:p.Glu402_Asp403insGluGluValLysGluGluGluGlu
NM_152424.4:c.1185_1208dup MANE Select NP_689637.3:p.Glu402_Asp403insGluGluValLysGluGluGluGlu
Search 100 bp 5'
Search 100 bp 3'