Canonical Allele Identifier: CA1139667606
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 945824
ClinVar RCV Id: RCV001216555
dbSNP Id: rs1930259440
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192067_64192073del , CM000685.2:g.64192067_64192073del GRCh38
NC_000023.10:g.63411947_63411953del , CM000685.1:g.63411947_63411953del GRCh37
NC_000023.9:g.63328672_63328678del NCBI36
NG_021345.1:g.18673_18679del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1215_1221del MANE Select ENSP00000364003.4:p.Leu406IlefsTer14
ENST00000330258.3:c.1215_1221del ENSP00000329117.3:p.Leu406IlefsTer14
ENST00000374869.7:c.1215_1221del ENSP00000364003.3:p.Leu406IlefsTer14
NM_152424.3:c.1215_1221del NP_689637.3:p.Leu406IlefsTer14
XM_011530858.1:c.1215_1221del XP_011529160.1:p.Leu406IlefsTer14
NM_152424.4:c.1215_1221del MANE Select NP_689637.3:p.Leu406IlefsTer14
Search 100 bp 5'
Search 100 bp 3'