Canonical Allele Identifier: CA992599266
Gene: AMH HGNC NCBI

Linked Data

gnomAD v3: 19-2251818-T-TCGGCG
gnomAD v4: 19-2251818-T-TCGGCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251819_2251820insGGCGC , CM000681.2:g.2251819_2251820insGGCGC GRCh38
NC_000019.9:g.2251818_2251819insGGCGC , CM000681.1:g.2251818_2251819insGGCGC GRCh37
NC_000019.8:g.2202818_2202819insGGCGC NCBI36
NG_012190.1:g.7706_7707insGGCGC
NG_032853.1:g.9605_9606insCGCCG

Transcript Alleles

HGVS Amino-acid change
ENST00000221496.5:c.1545_1546insGGCGC MANE Select ENSP00000221496.2:p.Arg516GlyfsTer?
ENST00000221496.4:c.1545_1546insGGCGC ENSP00000221496.2:p.Arg516GlyfsTer?
NM_000479.3:c.1545_1546insGGCGC NP_000470.2:p.Arg516GlyfsTer?
NM_000479.4:c.1545_1546insGGCGC NP_000470.2:p.Arg516GlyfsTer?
NM_000479.5:c.1545_1546insGGCGC MANE Select NP_000470.3:p.Arg516GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'