Canonical Allele Identifier: CA2436359036

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71141359_71141370del , CM000685.2:g.71141359_71141370del	GRCh38
NC_000023.10:g.70361209_70361220del , CM000685.1:g.70361209_70361220del	GRCh37
NC_000023.9:g.70277934_70277945del	NCBI36
NG_012808.1:g.27804_27815del
NG_015874.1:g.1529_1540del

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.6397_6408del MANE Select	NP_005111.2:p.Ser2133_Gln2136del
ENST00000374080.8:c.6397_6408del MANE Select	ENSP00000363193.3:p.Ser2133_Gln2136del
NM_005120.2:c.6397_6408del	NP_005111.2:p.Ser2133_Gln2136del
ENST00000333646.10:c.5947_5958del	ENSP00000333125.7:p.Ser1983_Gln1986del
ENST00000333646.11:c.6277_6288del	ENSP00000333125.8:p.Ser2093_Gln2096del
ENST00000374080.7:c.6397_6408del	ENSP00000363193.3:p.Ser2133_Gln2136del
ENST00000374102.5:c.6394_6405del	ENSP00000363215.1:p.Ser2132_Gln2135del
ENST00000374102.6:c.6406_6417del	ENSP00000363215.2:p.Ser2136_Gln2139del
ENST00000444034.2:c.1369_1380del	ENSP00000404373.2:p.Ser457_Gln460del
ENST00000685182.1:n.3095_3106del
ENST00000686169.1:n.2783_2794del
ENST00000686548.1:c.*6302_*6313del	ENSP00000509582.1:n.*6302_*6313del
ENST00000687161.1:n.3112_3123del
ENST00000687382.1:c.6322_6333del	ENSP00000510724.1:p.Ser2108_Gln2111del
ENST00000687701.1:n.3156_3167del
ENST00000687973.1:n.1070_1081del
ENST00000688079.1:n.4392_4403del
ENST00000688231.1:c.441_452del
ENST00000688508.1:n.1957_1968del
ENST00000688774.1:c.1175_1186del	ENSP00000508823.1:n.1175_1186del
ENST00000689489.1:n.716_727del
ENST00000689768.1:n.5016_5027del
ENST00000690145.1:c.6403_6414del	ENSP00000508818.1:p.Ser2135_Gln2138del
ENST00000690242.1:c.6331_6342del	ENSP00000510090.1:p.Ser2111_Gln2114del
ENST00000690250.1:n.4000_4011del
ENST00000690523.1:n.2507_2518del
ENST00000690807.1:c.1173_1184del	ENSP00000510476.1:n.1173_1184del
ENST00000690878.1:c.428_439del
ENST00000691113.1:c.4876_4887del	ENSP00000509755.1:n.4876_4887del
ENST00000691426.1:n.5696_5707del
ENST00000691909.1:n.3117_3128del
ENST00000692304.1:c.6394_6405del	ENSP00000508427.1:p.Ser2132_Gln2135del
ENST00000692893.1:n.3715_3726del
ENST00000693391.1:c.4348_4359del	ENSP00000509563.1:p.Ser1450_Gln1453del
XM_005262317.1:c.6406_6417del	XP_005262374.1:p.Ser2136_Gln2139del
XM_005262319.1:c.6331_6342del	XP_005262376.1:p.Ser2111_Gln2114del