Canonical Allele Identifier: CA9062762

Gene: AMH

Linked Data

• ClinVar Variation Id: 372806
• ClinVar RCV Id: RCV000414343
• dbSNP Id: rs769922506
• ExAC: 19:2249533 T / TC
• gnomAD v2: 19-2249533-T-TC
• gnomAD v3: 19-2249534-T-TC
• gnomAD v4: 19-2249534-T-TC
• COSMIC: COSM5139698
• MyVariant Identifiers: chr19:g.2249539dupC (hg19) ; chr19:g.2249533_2249534insC (hg19) ; chr19:g.2249540dupC (hg38) ; chr19:g.2249534_2249535insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2249540dup , CM000681.2:g.2249540dup	GRCh38
NC_000019.9:g.2249539dup , CM000681.1:g.2249539dup	GRCh37
NC_000019.8:g.2200539dup	NCBI36
NG_012190.1:g.5427dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.208dup MANE Select	ENSP00000221496.2:p.Leu70ProfsTer11
ENST00000221496.4:c.208dup	ENSP00000221496.2:p.Leu70ProfsTer11
ENST00000592877.1:n.232dup
NM_000479.3:c.208dup	NP_000470.2:p.Leu70ProfsTer11
NM_000479.4:c.208dup	NP_000470.2:p.Leu70ProfsTer11
NM_000479.5:c.208dup MANE Select	NP_000470.3:p.Leu70ProfsTer11