Canonical Allele Identifier: CA2433379255
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs1930260132
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192092_64192094del , CM000685.2:g.64192092_64192094del GRCh38
NC_000023.10:g.63411972_63411974del , CM000685.1:g.63411972_63411974del GRCh37
NC_000023.9:g.63328697_63328699del NCBI36
NG_021345.1:g.18658_18660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1200_1202del MANE Select ENSP00000364003.4:p.Glu401del
ENST00000330258.3:c.1200_1202del ENSP00000329117.3:p.Glu401del
ENST00000374869.7:c.1200_1202del ENSP00000364003.3:p.Glu401del
NM_152424.3:c.1200_1202del NP_689637.3:p.Glu401del
XM_011530858.1:c.1200_1202del XP_011529160.1:p.Glu401del
NM_152424.4:c.1200_1202del MANE Select NP_689637.3:p.Glu401del
Search 100 bp 5'
Search 100 bp 3'