Canonical Allele Identifier: CA2583853189

Gene: AMH

Linked Data

• gnomAD v4: 19-2251636-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251636_2251637insA , CM000681.2:g.2251636_2251637insA	GRCh38
NC_000019.9:g.2251635_2251636insA , CM000681.1:g.2251635_2251636insA	GRCh37
NC_000019.8:g.2202635_2202636insA	NCBI36
NG_012190.1:g.7523_7524insA
NG_032853.1:g.9787_9788insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1362_1363insA MANE Select	ENSP00000221496.2:p.Ala455SerfsTer?
ENST00000221496.4:c.1362_1363insA	ENSP00000221496.2:p.Ala455SerfsTer?
NM_000479.3:c.1362_1363insA	NP_000470.2:p.Ala455SerfsTer?
NM_000479.4:c.1362_1363insA	NP_000470.2:p.Ala455SerfsTer?
NM_000479.5:c.1362_1363insA MANE Select	NP_000470.3:p.Ala455SerfsTer?