Canonical Allele Identifier: CA2318204513
Gene: AMH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251728_2251731delinsCCAA , CM000681.2:g.2251728_2251731delinsCCAA GRCh38
NC_000019.9:g.2251727_2251730delinsCCAA , CM000681.1:g.2251727_2251730delinsCCAA GRCh37
NC_000019.8:g.2202727_2202730delinsCCAA NCBI36
NG_012190.1:g.7615_7618delinsCCAA
NG_032853.1:g.9693_9696delinsTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1454_1457delinsCCAA MANE Select ENSP00000221496.2:p.Ala485=
ENST00000221496.4:c.1454_1457delinsCCAA ENSP00000221496.2:p.Ala485=
NM_000479.3:c.1454_1457delinsCCAA NP_000470.2:p.Ala485=
NM_000479.4:c.1454_1457delinsCCAA NP_000470.2:p.Ala485=
NM_000479.5:c.1454_1457delinsCCAA MANE Select NP_000470.3:p.Ala485=