Canonical Allele Identifier: CA913191254

Gene: MED12

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71135248_71135250del , CM000685.2:g.71135248_71135250del	GRCh38
NC_000023.10:g.70355098_70355100del , CM000685.1:g.70355098_70355100del	GRCh37
NC_000023.9:g.70271823_70271825del	NCBI36
NG_012808.1:g.21693_21695del

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.5020_5022del MANE Select	NP_005111.2:p.Lys1674del
ENST00000374080.8:c.5020_5022del MANE Select	ENSP00000363193.3:p.Lys1674del
NM_005120.2:c.5020_5022del	NP_005111.2:p.Lys1674del
ENST00000333646.10:c.4561_4563del	ENSP00000333125.7:p.Lys1521del
ENST00000333646.11:c.4900_4902del	ENSP00000333125.8:p.Lys1634del
ENST00000374080.7:c.5020_5022del	ENSP00000363193.3:p.Lys1674del
ENST00000374102.5:c.5020_5022del	ENSP00000363215.1:p.Lys1674del
ENST00000374102.6:c.5020_5022del	ENSP00000363215.2:p.Lys1674del
ENST00000685182.1:n.1823_1825del
ENST00000685789.1:c.383_385del	ENSP00000509496.1:n.383_385del
ENST00000686169.1:n.1397_1399del
ENST00000686548.1:c.*4916_*4918del	ENSP00000509582.1:n.*4916_*4918del
ENST00000687161.1:n.1735_1737del
ENST00000687382.1:c.5020_5022del	ENSP00000510724.1:p.Lys1674del
ENST00000687701.1:n.1649_1651del
ENST00000688079.1:n.3015_3017del
ENST00000688508.1:n.571_573del
ENST00000688663.1:c.*1941_*1943del	ENSP00000509348.1:n.*1941_*1943del
ENST00000688881.1:n.1674_1676del
ENST00000688993.1:n.1391_1393del
ENST00000689768.1:n.3630_3632del
ENST00000690145.1:c.5020_5022del	ENSP00000508818.1:p.Lys1674del
ENST00000690242.1:c.5020_5022del	ENSP00000510090.1:p.Lys1674del
ENST00000690250.1:n.2689_2691del
ENST00000690828.1:n.5276_5278del
ENST00000691113.1:c.3499_3501del	ENSP00000509755.1:n.3499_3501del
ENST00000691426.1:n.4319_4321del
ENST00000691468.1:c.4969_4971del	ENSP00000509011.1:p.Lys1657del
ENST00000691909.1:n.1740_1742del
ENST00000692304.1:c.5020_5022del	ENSP00000508427.1:p.Lys1674del
ENST00000692893.1:n.2329_2331del
ENST00000692964.1:n.1854_1856del
ENST00000693324.1:c.4984_4986del	ENSP00000508643.1:p.Lys1662del
ENST00000693391.1:c.2965_2967del	ENSP00000509563.1:p.Lys989del
XM_005262317.1:c.5020_5022del	XP_005262374.1:p.Lys1674del
XM_005262319.1:c.5020_5022del	XP_005262376.1:p.Lys1674del