Canonical Allele Identifier: CA642470727
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs1357286708
gnomAD v2: X-63412021-TTCC-T
gnomAD v4: X-64192141-TTCC-T
MyVariant Identifiers: chrX:g.63412022_63412024del (hg19) chrX:g.64192142_64192144del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192147_64192149del , CM000685.2:g.64192147_64192149del GRCh38
NC_000023.10:g.63412027_63412029del , CM000685.1:g.63412027_63412029del GRCh37
NC_000023.9:g.63328752_63328754del NCBI36
NG_021345.1:g.18601_18603del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1143_1145del MANE Select ENSP00000364003.4:p.Glu382del
ENST00000330258.3:c.1143_1145del ENSP00000329117.3:p.Glu382del
ENST00000374869.7:c.1143_1145del ENSP00000364003.3:p.Glu382del
NM_152424.3:c.1143_1145del NP_689637.3:p.Glu382del
XM_011530858.1:c.1143_1145del XP_011529160.1:p.Glu382del
NM_152424.4:c.1143_1145del MANE Select NP_689637.3:p.Glu382del
Search 100 bp 5'
Search 100 bp 3'