Canonical Allele Identifier: CA2499221755
Community Standard Title: NM_020547.3(AMHR2):c.43del (p.Val15TrpfsTer29)
Gene: AMHR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53423977del , CM000674.2:g.53423977del GRCh38
NC_000012.11:g.53817761del , CM000674.1:g.53817761del GRCh37
NC_000012.10:g.52104028del NCBI36
NG_015981.1:g.5123del

Transcript Alleles

HGVS Amino-acid Change
NM_020547.3:c.43del MANE Select NP_065434.1:p.Val15TrpfsTer29
ENST00000257863.9:c.43del MANE Select ENSP00000257863.3:p.Val15TrpfsTer29
NM_001164690.1:c.43del NP_001158162.1:p.Val15TrpfsTer29
NM_001164690.2:c.43del NP_001158162.1:p.Val15TrpfsTer29
NM_001164691.1:c.43del NP_001158163.1:p.Val15TrpfsTer29
NM_001164691.2:c.43del NP_001158163.1:p.Val15TrpfsTer29
NM_020547.2:c.43del NP_065434.1:p.Val15TrpfsTer29
ENST00000257863.8:c.43del ENSP00000257863.3:p.Val15TrpfsTer29
ENST00000379791.7:c.43del ENSP00000369117.3:p.Val15TrpfsTer29
ENST00000550311.5:c.43del ENSP00000446661.1:p.Val15TrpfsTer29
XM_011538173.1:c.43del XP_011536475.1:p.Val15TrpfsTer29
XM_011538174.1:c.43del XP_011536476.1:p.Val15TrpfsTer29
XM_011538175.1:c.43del XP_011536477.1:p.Val15TrpfsTer29
XM_011538176.1:c.43del XP_011536478.1:p.Val15TrpfsTer29
XM_011538177.1:c.43del XP_011536479.1:p.Val15TrpfsTer29
XM_011538178.1:c.43del XP_011536480.1:p.Val15TrpfsTer29
XM_011538179.1:c.43del XP_011536481.1:p.Val15TrpfsTer29
XM_011538180.1:c.-205del XP_011536482.1:n.-205del
XM_011538181.1:c.-205del XP_011536483.1:n.-205del
XM_011538182.1:c.-205del XP_011536484.1:n.-205del
XM_011538183.1:c.43del XP_011536485.1:p.Val15TrpfsTer29
XM_011538183.2:c.43del XP_011536485.1:p.Val15TrpfsTer29
XM_011538184.1:c.43del XP_011536486.1:p.Val15TrpfsTer29
XM_011538184.2:c.43del XP_011536486.1:p.Val15TrpfsTer29
XM_011538185.1:c.43del XP_011536487.1:p.Val15TrpfsTer29
XM_011538187.1:c.43del XP_011536489.1:p.Val15TrpfsTer29
XM_017019179.2:c.43del XP_016874668.1:p.Val15TrpfsTer29
XM_024448938.1:c.43del XP_024304706.1:p.Val15TrpfsTer29
XR_002957309.1:n.123del
XR_002957310.1:n.123del
XR_002957311.1:n.123del
XR_002957312.1:n.123del