Canonical Allele Identifier: CA2318204311
Gene: AMH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251414_2251448delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA , CM000681.2:g.2251414_2251448delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA GRCh38
NC_000019.9:g.2251413_2251447delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA , CM000681.1:g.2251413_2251447delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA GRCh37
NC_000019.8:g.2202413_2202447delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA NCBI36
NG_012190.1:g.7301_7335delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA
NG_032853.1:g.9976_10010delinsTTCGCAGCTCGGCAGCCGCCGCTTGCAGTTCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1140_1174delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA MANE Select ENSP00000221496.2:p.Ala380=
ENST00000221496.4:c.1140_1174delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA ENSP00000221496.2:p.Ala380=
ENST00000589313.2:n.1493_1527delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA
NM_000479.3:c.1140_1174delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA NP_000470.2:p.Ala380=
NM_000479.4:c.1140_1174delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA NP_000470.2:p.Ala380=
NM_000479.5:c.1140_1174delinsTGCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAA MANE Select NP_000470.3:p.Ala380=