Canonical Allele Identifier: CA703261374
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs1203513966
gnomAD v3: 14-102922665-TG-T
gnomAD v4: 14-102922665-TG-T
MyVariant Identifiers: chr14:g.103389003del (hg19) chr14:g.102922666del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922669del , CM000676.2:g.102922669del GRCh38
NC_000014.8:g.103389006del , CM000676.1:g.103389006del GRCh37
NC_000014.7:g.102458759del NCBI36
NG_008276.2:g.5014del , LRG_642:g.5014del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.-20del MANE Select ENSP00000299155.6:n.-20del
ENST00000299155.9:c.-20del ENSP00000299155.5:n.-20del
NM_030943.3:c.-20del , LRG_642t1:c.-20del NP_112205.2:n.-20del
XM_011537202.1:c.-201del XP_011535504.1:n.-201del
XM_011537202.3:c.-201del XP_011535504.1:n.-201del
XM_024449714.1:c.77del XP_024305482.1:p.Gly26ValfsTer23
NM_030943.4:c.-20del MANE Select NP_112205.2:n.-20del
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