Canonical Allele Identifier: CA10444884

Gene: MED12

Linked Data

• ClinVar Variation Id: 519565
• ClinVar RCV Id: RCV002314182 ; RCV003762835
• dbSNP Id: rs767827315
• ExAC: X:70360602 GCAGCAACAGCAGCAA / G
• gnomAD v2: X-70360602-GCAGCAACAGCAGCAA-G
• gnomAD v4: X-71140752-GCAGCAACAGCAGCAA-G
• MyVariant Identifiers: chrX:g.70360617_70360631del (hg19) ; chrX:g.70360603_70360617del (hg19) ; chrX:g.71140767_71140781del (hg38) ; chrX:g.71140753_71140767del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71140767_71140781del , CM000685.2:g.71140767_71140781del	GRCh38
NC_000023.10:g.70360617_70360631del , CM000685.1:g.70360617_70360631del	GRCh37
NC_000023.9:g.70277342_70277356del	NCBI36
NG_012808.1:g.27212_27226del
NG_015874.1:g.937_951del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333646.11:c.6057_6071del	ENSP00000333125.8:p.Gln2020_Gln2024del
ENST00000374102.6:c.6186_6200del	ENSP00000363215.2:p.Gln2063_Gln2067del
ENST00000444034.2:c.1152_1166del	ENSP00000404373.2:p.Gln385_Gln389del
ENST00000685182.1:n.2875_2889del
ENST00000686169.1:n.2563_2577del
ENST00000686548.1:c.*6082_*6096del	ENSP00000509582.1:n.*6082_*6096del
ENST00000687161.1:n.2892_2906del
ENST00000687382.1:c.6102_6116del	ENSP00000510724.1:p.Gln2035_Gln2039del
ENST00000687701.1:n.2936_2950del
ENST00000687973.1:n.850_864del
ENST00000688079.1:n.4172_4186del
ENST00000688231.1:c.221_235del
ENST00000688508.1:n.1737_1751del
ENST00000688663.1:c.*3098_*3112del	ENSP00000509348.1:n.*3098_*3112del
ENST00000688774.1:c.955_969del	ENSP00000508823.1:n.955_969del
ENST00000688881.1:n.2840_2854del
ENST00000688993.1:n.2557_2571del
ENST00000689489.1:n.496_510del
ENST00000689768.1:n.4796_4810del
ENST00000690145.1:c.6183_6197del	ENSP00000508818.1:p.Gln2062_Gln2066del
ENST00000690242.1:c.6111_6125del	ENSP00000510090.1:p.Gln2038_Gln2042del
ENST00000690250.1:n.3780_3794del
ENST00000690523.1:n.2287_2301del
ENST00000690807.1:c.953_967del	ENSP00000510476.1:n.953_967del
ENST00000690878.1:c.208_222del
ENST00000691113.1:c.4656_4670del	ENSP00000509755.1:n.4656_4670del
ENST00000691426.1:n.5476_5490del
ENST00000691909.1:n.2897_2911del
ENST00000692304.1:c.6174_6188del	ENSP00000508427.1:p.Gln2059_Gln2063del
ENST00000692893.1:n.3495_3509del
ENST00000693391.1:c.4131_4145del	ENSP00000509563.1:p.Gln1378_Gln1382del
ENST00000374080.8:c.6177_6191del MANE Select	ENSP00000363193.3:p.Gln2060_Gln2064del
ENST00000333646.10:c.5727_5741del	ENSP00000333125.7:p.Gln1910_Gln1914del
ENST00000374080.7:c.6177_6191del	ENSP00000363193.3:p.Gln2060_Gln2064del
ENST00000374102.5:c.6174_6188del	ENSP00000363215.1:p.Gln2059_Gln2063del
NM_005120.2:c.6177_6191del	NP_005111.2:p.Gln2060_Gln2064del
XM_005262317.1:c.6186_6200del	XP_005262374.1:p.Gln2063_Gln2067del
XM_005262319.1:c.6111_6125del	XP_005262376.1:p.Gln2038_Gln2042del
NM_005120.3:c.6177_6191del MANE Select	NP_005111.2:p.Gln2060_Gln2064del