Canonical Allele Identifier: CA2813287892
Gene: AMH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251945_2251956del , CM000681.2:g.2251945_2251956del GRCh38
NC_000019.9:g.2251944_2251955del , CM000681.1:g.2251944_2251955del GRCh37
NC_000019.8:g.2202944_2202955del NCBI36
NG_012190.1:g.7832_7843del
NG_032853.1:g.9471_9482del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1671_1682del MANE Select ENSP00000221496.2:p.Cys557Ter
ENST00000221496.4:c.1671_1682del ENSP00000221496.2:p.Cys557Ter
NM_000479.3:c.1671_1682del NP_000470.2:p.Cys557Ter
NM_000479.4:c.1671_1682del NP_000470.2:p.Cys557Ter
NM_000479.5:c.1671_1682del MANE Select NP_000470.3:p.Cys557Ter