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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2318204513
Gene: AMH
HGNC
NCBI
JSON-LD
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=
Search 100 bp 5'
Search 100 bp 3'