Canonical Allele Identifier: CA10432364
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs767111732
ExAC: X:63411891 GGTA / G
gnomAD v2: X-63411891-GGTA-G
gnomAD v3: X-64192011-GGTA-G
gnomAD v4: X-64192011-GGTA-G
MyVariant Identifiers: chrX:g.63411892_63411894del (hg19) chrX:g.64192012_64192014del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192013_64192015del , CM000685.2:g.64192013_64192015del GRCh38
NC_000023.10:g.63411893_63411895del , CM000685.1:g.63411893_63411895del GRCh37
NC_000023.9:g.63328618_63328620del NCBI36
NG_021345.1:g.18731_18733del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1273_1275del MANE Select ENSP00000364003.4:p.Tyr425del
ENST00000330258.3:c.1273_1275del ENSP00000329117.3:p.Tyr425del
ENST00000374869.7:c.1273_1275del ENSP00000364003.3:p.Tyr425del
NM_152424.3:c.1273_1275del NP_689637.3:p.Tyr425del
XM_011530858.1:c.1273_1275del XP_011529160.1:p.Tyr425del
NM_152424.4:c.1273_1275del MANE Select NP_689637.3:p.Tyr425del
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