Canonical Allele Identifier: CA2583853193

Gene: AMH

Linked Data

• gnomAD v4: 19-2251656-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251656_2251657insT , CM000681.2:g.2251656_2251657insT	GRCh38
NC_000019.9:g.2251655_2251656insT , CM000681.1:g.2251655_2251656insT	GRCh37
NC_000019.8:g.2202655_2202656insT	NCBI36
NG_012190.1:g.7543_7544insT
NG_032853.1:g.9767_9768insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1382_1383insT MANE Select	ENSP00000221496.2:p.Cys462ValfsTer?
ENST00000221496.4:c.1382_1383insT	ENSP00000221496.2:p.Cys462ValfsTer?
NM_000479.3:c.1382_1383insT	NP_000470.2:p.Cys462ValfsTer?
NM_000479.4:c.1382_1383insT	NP_000470.2:p.Cys462ValfsTer?
NM_000479.5:c.1382_1383insT MANE Select	NP_000470.3:p.Cys462ValfsTer?