Canonical Allele Identifier: CA2318204266
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025039237
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251349_2251351del , CM000681.2:g.2251349_2251351del GRCh38
NC_000019.9:g.2251348_2251350del , CM000681.1:g.2251348_2251350del GRCh37
NC_000019.8:g.2202348_2202350del NCBI36
NG_012190.1:g.7236_7238del
NG_032853.1:g.10073_10075del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1075_1077del MANE Select ENSP00000221496.2:p.Asp359del
ENST00000221496.4:c.1075_1077del ENSP00000221496.2:p.Asp359del
ENST00000589313.2:n.1428_1430del
NM_000479.3:c.1075_1077del NP_000470.2:p.Asp359del
NM_000479.4:c.1075_1077del NP_000470.2:p.Asp359del
NM_000479.5:c.1075_1077del MANE Select NP_000470.3:p.Asp359del
Search 100 bp 5'
Search 100 bp 3'