Canonical Allele Identifier: CA2065365140

Gene: MED13L

Linked Data

• dbSNP Id: rs1878835890

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116002963_116002964insAACATATCGTAAGAAAAAACTCTTCTCCTAAATTGAAAAGTC , CM000674.2:g.116002963_116002964insAACATATCGTAAGAAAAAACTCTTCTCCTAAATTGAAAAGTC	GRCh38
NC_000012.11:g.116440768_116440769insAACATATCGTAAGAAAAAACTCTTCTCCTAAATTGAAAAGTC , CM000674.1:g.116440768_116440769insAACATATCGTAAGAAAAAACTCTTCTCCTAAATTGAAAAGTC	GRCh37
NC_000012.10:g.114925151_114925152insAACATATCGTAAGAAAAAACTCTTCTCCTAAATTGAAAAGTC	NCBI36
NG_023366.1:g.279223_279224insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT MANE Select	ENSP00000281928.3:n.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAG...
ENST00000548743.2:c.2539+39_2539+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT	ENSP00000448553.2:n.2539+39_2539+40insGACTTTTCAATTTAGGAGAAGAG...
ENST00000549786.2:c.1997+39_1997+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT
ENST00000648173.1:n.1364+39_1364+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT
ENST00000648379.1:n.937+39_937+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT
ENST00000648737.1:n.2333+39_2333+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT
ENST00000648916.1:n.580+39_580+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT
ENST00000649607.1:c.756+39_756+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT
ENST00000650226.1:c.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT	ENSP00000496981.1:n.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAG...
ENST00000281928.7:c.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT	ENSP00000281928.3:n.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAG...
NM_015335.4:c.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT	NP_056150.1:n.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTTTTT...
XM_011538080.1:c.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT	XP_011536382.1:n.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTT...
XM_011538081.1:c.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT	XP_011536383.1:n.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTT...
XM_011538082.1:c.2539+39_2539+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT	XP_011536384.1:n.2539+39_2539+40insGACTTTTCAATTTAGGAGAAGAGTTT...
XM_011538080.2:c.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT	XP_011536382.1:n.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTT...
XM_011538081.2:c.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT	XP_011536383.1:n.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTT...
XM_011538082.2:c.2539+39_2539+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT	XP_011536384.1:n.2539+39_2539+40insGACTTTTCAATTTAGGAGAAGAGTTT...
XM_017019090.1:c.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT	XP_016874579.1:n.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTT...
NM_015335.5:c.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTTTTTCTTACGATATGTT MANE Select	NP_056150.1:n.2569+39_2569+40insGACTTTTCAATTTAGGAGAAGAGTTTTTT...