Canonical Allele Identifier: CA2318204657
Gene: AMH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251949_2251953delinsTGCCG , CM000681.2:g.2251949_2251953delinsTGCCG GRCh38
NC_000019.9:g.2251948_2251952delinsTGCCG , CM000681.1:g.2251948_2251952delinsTGCCG GRCh37
NC_000019.8:g.2202948_2202952delinsTGCCG NCBI36
NG_012190.1:g.7836_7840delinsTGCCG
NG_032853.1:g.9471_9475delinsCGGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1675_1679delinsTGCCG MANE Select ENSP00000221496.2:p.Cys559=
ENST00000221496.4:c.1675_1679delinsTGCCG ENSP00000221496.2:p.Cys559=
NM_000479.3:c.1675_1679delinsTGCCG NP_000470.2:p.Cys559=
NM_000479.4:c.1675_1679delinsTGCCG NP_000470.2:p.Cys559=
NM_000479.5:c.1675_1679delinsTGCCG MANE Select NP_000470.3:p.Cys559=
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