Canonical Allele Identifier: CA2433379282
Gene: AMER1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192147_64192150delinsCTCG , CM000685.2:g.64192147_64192150delinsCTCG GRCh38
NC_000023.10:g.63412027_63412030delinsCTCG , CM000685.1:g.63412027_63412030delinsCTCG GRCh37
NC_000023.9:g.63328752_63328755delinsCTCG NCBI36
NG_021345.1:g.18595_18598delinsCGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1137_1140delinsCGAG MANE Select ENSP00000364003.4:p.Asp379=
ENST00000330258.3:c.1137_1140delinsCGAG ENSP00000329117.3:p.Asp379=
ENST00000374869.7:c.1137_1140delinsCGAG ENSP00000364003.3:p.Asp379=
NM_152424.3:c.1137_1140delinsCGAG NP_689637.3:p.Asp379=
XM_011530858.1:c.1137_1140delinsCGAG XP_011529160.1:p.Asp379=
NM_152424.4:c.1137_1140delinsCGAG MANE Select NP_689637.3:p.Asp379=
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