Canonical Allele Identifier: CA915950740
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 817104
ClinVar RCV Id: RCV001008206
dbSNP Id: rs1602067874
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192186_64192187insG , CM000685.2:g.64192186_64192187insG GRCh38
NC_000023.10:g.63412066_63412067insG , CM000685.1:g.63412066_63412067insG GRCh37
NC_000023.9:g.63328791_63328792insG NCBI36
NG_021345.1:g.18558_18559insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1100_1101insC MANE Select ENSP00000364003.4:p.Gly368ArgfsTer10
ENST00000330258.3:c.1100_1101insC ENSP00000329117.3:p.Gly368ArgfsTer10
ENST00000374869.7:c.1100_1101insC ENSP00000364003.3:p.Gly368ArgfsTer10
NM_152424.3:c.1100_1101insC NP_689637.3:p.Gly368ArgfsTer10
XM_011530858.1:c.1100_1101insC XP_011529160.1:p.Gly368ArgfsTer10
NM_152424.4:c.1100_1101insC MANE Select NP_689637.3:p.Gly368ArgfsTer10
Search 100 bp 5'
Search 100 bp 3'