Canonical Allele Identifier: CA992599124
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025045413
gnomAD v3: 19-2251602-CGCGCGGGCCGGGTCGGGCACAGCGCA-C
gnomAD v4: 19-2251602-CGCGCGGGCCGGGTCGGGCACAGCGCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251610_2251635del , CM000681.2:g.2251610_2251635del GRCh38
NC_000019.9:g.2251609_2251634del , CM000681.1:g.2251609_2251634del GRCh37
NC_000019.8:g.2202609_2202634del NCBI36
NG_012190.1:g.7497_7522del
NG_032853.1:g.9796_9821del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1336_1361del MANE Select ENSP00000221496.2:p.Pro446GlyfsTer?
ENST00000221496.4:c.1336_1361del ENSP00000221496.2:p.Pro446GlyfsTer?
NM_000479.3:c.1336_1361del NP_000470.2:p.Pro446GlyfsTer?
NM_000479.4:c.1336_1361del NP_000470.2:p.Pro446GlyfsTer?
NM_000479.5:c.1336_1361del MANE Select NP_000470.3:p.Pro446GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'