Canonical Allele Identifier: CA877176338
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs587778022
gnomAD v3: X-64192124-A-ACCTCTTCTT
gnomAD v4: X-64192124-A-ACCTCTTCTT
MyVariant Identifiers: chrX:g.63412004_63412005insCCTCTTCTT (hg19) chrX:g.64192124_64192125insCCTCTTCTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192138_64192146dup , CM000685.2:g.64192138_64192146dup GRCh38
NC_000023.10:g.63412018_63412026dup , CM000685.1:g.63412018_63412026dup GRCh37
NC_000023.9:g.63328743_63328751dup NCBI36
NG_021345.1:g.18612_18620dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1154_1162dup MANE Select ENSP00000364003.4:p.Glu387_Val388insGluGluGlu
ENST00000330258.3:c.1154_1162dup ENSP00000329117.3:p.Glu387_Val388insGluGluGlu
ENST00000374869.7:c.1154_1162dup ENSP00000364003.3:p.Glu387_Val388insGluGluGlu
NM_152424.3:c.1154_1162dup NP_689637.3:p.Glu387_Val388insGluGluGlu
XM_011530858.1:c.1154_1162dup XP_011529160.1:p.Glu387_Val388insGluGluGlu
NM_152424.4:c.1154_1162dup MANE Select NP_689637.3:p.Glu387_Val388insGluGluGlu
Search 100 bp 5'
Search 100 bp 3'