Canonical Allele Identifier: CA2583853156

Gene: AMH

Linked Data

• gnomAD v4: 19-2251492-CCTGCTCGCGCTCTGCCCAGGTGGCCCCGGCGGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251494_2251528del , CM000681.2:g.2251494_2251528del	GRCh38
NC_000019.9:g.2251493_2251527del , CM000681.1:g.2251493_2251527del	GRCh37
NC_000019.8:g.2202493_2202527del	NCBI36
NG_012190.1:g.7381_7415del
NG_032853.1:g.9897_9931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1220_1254del MANE Select	ENSP00000221496.2:p.Leu407ArgfsTer?
ENST00000221496.4:c.1220_1254del	ENSP00000221496.2:p.Leu407ArgfsTer?
ENST00000589313.2:n.1573_1607del
NM_000479.3:c.1220_1254del	NP_000470.2:p.Leu407ArgfsTer?
NM_000479.4:c.1220_1254del	NP_000470.2:p.Leu407ArgfsTer?
NM_000479.5:c.1220_1254del MANE Select	NP_000470.3:p.Leu407ArgfsTer?