Canonical Allele Identifier: CA2583853155
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251487-GCGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251488_2251490del , CM000681.2:g.2251488_2251490del GRCh38
NC_000019.9:g.2251487_2251489del , CM000681.1:g.2251487_2251489del GRCh37
NC_000019.8:g.2202487_2202489del NCBI36
NG_012190.1:g.7375_7377del
NG_032853.1:g.9934_9936del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1214_1216del MANE Select ENSP00000221496.2:p.Ala405_Arg406delinsGly
ENST00000221496.4:c.1214_1216del ENSP00000221496.2:p.Ala405_Arg406delinsGly
ENST00000589313.2:n.1567_1569del
NM_000479.3:c.1214_1216del NP_000470.2:p.Ala405_Arg406delinsGly
NM_000479.4:c.1214_1216del NP_000470.2:p.Ala405_Arg406delinsGly
NM_000479.5:c.1214_1216del MANE Select NP_000470.3:p.Ala405_Arg406delinsGly
Search 100 bp 5'
Search 100 bp 3'