Canonical Allele Identifier: CA2583853201
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251880-CTCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251884_2251886del , CM000681.2:g.2251884_2251886del GRCh38
NC_000019.9:g.2251883_2251885del , CM000681.1:g.2251883_2251885del GRCh37
NC_000019.8:g.2202883_2202885del NCBI36
NG_012190.1:g.7771_7773del
NG_032853.1:g.9541_9543del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1610_1612del MANE Select ENSP00000221496.2:p.Ile537del
ENST00000221496.4:c.1610_1612del ENSP00000221496.2:p.Ile537del
NM_000479.3:c.1610_1612del NP_000470.2:p.Ile537del
NM_000479.4:c.1610_1612del NP_000470.2:p.Ile537del
NM_000479.5:c.1610_1612del MANE Select NP_000470.3:p.Ile537del
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