Canonical Allele Identifier: CA2695227991
Gene: AMH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251796_2251798dup , CM000681.2:g.2251796_2251798dup GRCh38
NC_000019.9:g.2251795_2251797dup , CM000681.1:g.2251795_2251797dup GRCh37
NC_000019.8:g.2202795_2202797dup NCBI36
NG_012190.1:g.7683_7685dup
NG_032853.1:g.9629_9631dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1522_1524dup MANE Select ENSP00000221496.2:p.Val508_Leu509insVal
ENST00000221496.4:c.1522_1524dup ENSP00000221496.2:p.Val508_Leu509insVal
NM_000479.3:c.1522_1524dup NP_000470.2:p.Val508_Leu509insVal
NM_000479.4:c.1522_1524dup NP_000470.2:p.Val508_Leu509insVal
NM_000479.5:c.1522_1524dup MANE Select NP_000470.3:p.Val508_Leu509insVal