Canonical Allele Identifier: CA2583853182
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251596-G-GGGATCCGCGCGGGCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251599_2251613dup , CM000681.2:g.2251599_2251613dup GRCh38
NC_000019.9:g.2251598_2251612dup , CM000681.1:g.2251598_2251612dup GRCh37
NC_000019.8:g.2202598_2202612dup NCBI36
NG_012190.1:g.7486_7500dup
NG_032853.1:g.9813_9827dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1325_1339dup MANE Select ENSP00000221496.2:p.Pro446_Gly447insAspProArgGlyPro
ENST00000221496.4:c.1325_1339dup ENSP00000221496.2:p.Pro446_Gly447insAspProArgGlyPro
NM_000479.3:c.1325_1339dup NP_000470.2:p.Pro446_Gly447insAspProArgGlyPro
NM_000479.4:c.1325_1339dup NP_000470.2:p.Pro446_Gly447insAspProArgGlyPro
NM_000479.5:c.1325_1339dup MANE Select NP_000470.3:p.Pro446_Gly447insAspProArgGlyPro
Search 100 bp 5'
Search 100 bp 3'