Canonical Allele Identifier: CA2318204643

Gene: AMH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251928_2251931delinsATGG , CM000681.2:g.2251928_2251931delinsATGG	GRCh38
NC_000019.9:g.2251927_2251930delinsATGG , CM000681.1:g.2251927_2251930delinsATGG	GRCh37
NC_000019.8:g.2202927_2202930delinsATGG	NCBI36
NG_012190.1:g.7815_7818delinsATGG
NG_032853.1:g.9493_9496delinsCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1654_1657delinsATGG MANE Select	ENSP00000221496.2:p.Met552=
ENST00000221496.4:c.1654_1657delinsATGG	ENSP00000221496.2:p.Met552=
NM_000479.3:c.1654_1657delinsATGG	NP_000470.2:p.Met552=
NM_000479.4:c.1654_1657delinsATGG	NP_000470.2:p.Met552=
NM_000479.5:c.1654_1657delinsATGG MANE Select	NP_000470.3:p.Met552=