Canonical Allele Identifier: CA2160048588
Gene: AMN HGNC NCBI

Linked Data

dbSNP Id: rs1891086621

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102922798_102922799del , CM000676.2:g.102922798_102922799del GRCh38
NC_000014.8:g.103389135_103389136del , CM000676.1:g.103389135_103389136del GRCh37
NC_000014.7:g.102458888_102458889del NCBI36
NG_008276.2:g.5143_5144del , LRG_642:g.5143_5144del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299155.10:c.43+67_43+68del MANE Select ENSP00000299155.6:n.43+67_43+68del
ENST00000299155.9:c.43+67_43+68del ENSP00000299155.5:n.43+67_43+68del
NM_030943.3:c.43+67_43+68del , LRG_642t1:c.43+67_43+68del NP_112205.2:n.43+67_43+68del
XM_011537202.1:c.-120+48_-120+49del XP_011535504.1:n.-120+48_-120+49del
XM_011537202.3:c.-120+48_-120+49del XP_011535504.1:n.-120+48_-120+49del
XM_024449714.1:c.139+67_139+68del XP_024305482.1:n.139+67_139+68del
NM_030943.4:c.43+67_43+68del MANE Select NP_112205.2:n.43+67_43+68del