Canonical Allele Identifier: CA642470726
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs1569192280
gnomAD v2: X-63412428-GAGA-G
gnomAD v4: X-64192548-GAGA-G
MyVariant Identifiers: chrX:g.63412429_63412431del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192551_64192553del , CM000685.2:g.64192551_64192553del GRCh38
NC_000023.10:g.63412431_63412433del , CM000685.1:g.63412431_63412433del GRCh37
NC_000023.9:g.63329156_63329158del NCBI36
NG_021345.1:g.18194_18196del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.736_738del MANE Select ENSP00000364003.4:p.Ser246del
ENST00000330258.3:c.736_738del ENSP00000329117.3:p.Ser246del
ENST00000374869.7:c.736_738del ENSP00000364003.3:p.Ser246del
NM_152424.3:c.736_738del NP_689637.3:p.Ser246del
XM_011530858.1:c.736_738del XP_011529160.1:p.Ser246del
NM_152424.4:c.736_738del MANE Select NP_689637.3:p.Ser246del
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