Canonical Allele Identifier: CA992599288
Gene: AMH HGNC NCBI

Linked Data

gnomAD v3: 19-2251822-TG-T
gnomAD v4: 19-2251822-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251826del , CM000681.2:g.2251826del GRCh38
NC_000019.9:g.2251825del , CM000681.1:g.2251825del GRCh37
NC_000019.8:g.2202825del NCBI36
NG_012190.1:g.7713del
NG_032853.1:g.9601del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1552del MANE Select ENSP00000221496.2:p.Ala518ProfsTer?
ENST00000221496.4:c.1552del ENSP00000221496.2:p.Ala518ProfsTer?
NM_000479.3:c.1552del NP_000470.2:p.Ala518ProfsTer?
NM_000479.4:c.1552del NP_000470.2:p.Ala518ProfsTer?
NM_000479.5:c.1552del MANE Select NP_000470.3:p.Ala518ProfsTer?
Search 100 bp 5'
Search 100 bp 3'