Canonical Allele Identifier: CA1683312909
Gene: AMZ1 HGNC NCBI

Linked Data

dbSNP Id: rs1789502535

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2723490dup , CM000669.2:g.2723490dup GRCh38
NC_000007.13:g.2763124dup , CM000669.1:g.2763124dup GRCh37
NC_000007.12:g.2729650dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000489665.1:n.550+13674dup
XM_011515151.1:c.778+13674dup XP_011513453.1:n.778+13674dup
NM_001321766.1:c.948+13674dup NP_001308695.1:n.948+13674dup
XM_011515151.3:c.778+13674dup XP_011513453.1:n.778+13674dup
XM_017011774.2:c.778+13674dup XP_016867263.1:n.778+13674dup
NM_001321766.2:c.948+13674dup NP_001308695.1:n.948+13674dup
NM_001384740.1:c.948+13674dup NP_001371669.1:n.948+13674dup
NM_001384741.1:c.779-7531dup NP_001371670.1:n.779-7531dup
NM_001384742.1:c.779-991dup NP_001371671.1:n.779-991dup