Canonical Allele Identifier: CA2580068968
Gene: MED12L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.151388050_151388051delinsTG , CM000665.2:g.151388050_151388051delinsTG GRCh38
NC_000003.11:g.151105838_151105839delinsTG , CM000665.1:g.151105838_151105839delinsTG GRCh37
NC_000003.10:g.152588528_152588529delinsTG NCBI36
NG_016019.1:g.1706_1707delinsCA , LRG_569:g.1706_1707delinsCA
NG_021244.1:g.306163_306164delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000687756.1:c.5329_5330delinsTG MANE Select ENSP00000508695.1:p.Pro1777Ter
ENST00000273432.8:c.4804_4805delinsTG ENSP00000273432.4:p.Pro1602Ter
ENST00000474524.5:c.5224_5225delinsTG ENSP00000417235.1:p.Pro1742Ter
NM_053002.5:c.5224_5225delinsTG NP_443728.3:p.Pro1742Ter
XM_006713487.2:c.5329_5330delinsTG XP_006713550.1:p.Pro1777Ter
XM_011512386.1:c.5329_5330delinsTG XP_011510688.1:p.Pro1777Ter
XM_011512387.1:c.5326_5327delinsTG XP_011510689.1:p.Pro1776Ter
XM_011512388.1:c.5329_5330delinsTG XP_011510690.1:p.Pro1777Ter
XM_011512389.1:c.5224_5225delinsTG XP_011510691.1:p.Pro1742Ter
XM_011512390.1:c.5224_5225delinsTG XP_011510692.1:p.Pro1742Ter
XM_011512391.1:c.5059_5060delinsTG XP_011510693.1:p.Pro1687Ter
XM_011512392.1:c.4873_4874delinsTG XP_011510694.1:p.Pro1625Ter
XM_011512393.1:c.5329_5330delinsTG XP_011510695.1:p.Pro1777Ter
XM_011512394.1:c.5329_5330delinsTG XP_011510696.1:p.Pro1777Ter
XM_011512395.1:c.5329_5330delinsTG XP_011510697.1:p.Pro1777Ter
XM_011512396.1:c.3754_3755delinsTG XP_011510698.1:p.Pro1252Ter
XM_011512397.1:c.3196_3197delinsTG XP_011510699.1:p.Pro1066Ter
XM_011512398.1:c.3124_3125delinsTG XP_011510700.1:p.Pro1042Ter
XM_011512400.1:c.2146_2147delinsTG XP_011510702.1:p.Pro716Ter
XM_006713487.3:c.5329_5330delinsTG XP_006713550.1:p.Pro1777Ter
XM_011512390.2:c.5224_5225delinsTG XP_011510692.1:p.Pro1742Ter
XM_011512394.2:c.5329_5330delinsTG XP_011510696.1:p.Pro1777Ter
XM_017005676.1:c.5329_5330delinsTG XP_016861165.1:p.Pro1777Ter
XM_017005677.1:c.5326_5327delinsTG XP_016861166.1:p.Pro1776Ter
XM_017005678.1:c.5329_5330delinsTG XP_016861167.1:p.Pro1777Ter
XM_017005679.1:c.5059_5060delinsTG XP_016861168.1:p.Pro1687Ter
XM_017005680.1:c.5047_5048delinsTG XP_016861169.1:p.Pro1683Ter
XM_017005681.1:c.2716_2717delinsTG XP_016861170.1:p.Pro906Ter
NM_001393769.1:c.5329_5330delinsTG MANE Select NP_001380698.1:p.Pro1777Ter
NM_053002.6:c.5224_5225delinsTG NP_443728.3:p.Pro1742Ter