Canonical Allele Identifier: CA2797590604

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970749_115970750insAAAAAAAAAAA , CM000674.2:g.115970749_115970750insAAAAAAAAAAA	GRCh38
NC_000012.11:g.116408554_116408555insAAAAAAAAAAA , CM000674.1:g.116408554_116408555insAAAAAAAAAAA	GRCh37
NC_000012.10:g.114892937_114892938insAAAAAAAAAAA	NCBI36
NG_023366.1:g.311442_311443insTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5916_5917insTTTTTTTTTTT MANE Select	ENSP00000281928.3:p.Gly1973PhefsTer10
ENST00000548784.2:n.2130_2131insTTTTTTTTTTT
ENST00000648379.1:n.4284_4285insTTTTTTTTTTT
ENST00000648737.1:n.5680_5681insTTTTTTTTTTT
ENST00000648825.1:n.4101_4102insTTTTTTTTTTT
ENST00000648916.1:n.3927_3928insTTTTTTTTTTT
ENST00000649607.1:c.4100_4101insTTTTTTTTTTT
ENST00000649775.1:c.2405_2406insTTTTTTTTTTT
ENST00000650226.1:c.5952_5953insTTTTTTTTTTT	ENSP00000496981.1:p.Gly1985PhefsTer10
ENST00000281928.7:c.5916_5917insTTTTTTTTTTT	ENSP00000281928.3:p.Gly1973PhefsTer10
ENST00000548784.1:n.414_415insTTTTTTTTTTT
ENST00000552447.1:c.529_530insTTTTTTTTTTT
NM_015335.4:c.5916_5917insTTTTTTTTTTT	NP_056150.1:p.Gly1973PhefsTer10
XM_011538080.1:c.5952_5953insTTTTTTTTTTT	XP_011536382.1:p.Gly1985PhefsTer10
XM_011538081.1:c.5949_5950insTTTTTTTTTTT	XP_011536383.1:p.Gly1984PhefsTer10
XM_011538082.1:c.5922_5923insTTTTTTTTTTT	XP_011536384.1:p.Gly1975PhefsTer10
XM_011538080.2:c.5952_5953insTTTTTTTTTTT	XP_011536382.1:p.Gly1985PhefsTer10
XM_011538081.2:c.5949_5950insTTTTTTTTTTT	XP_011536383.1:p.Gly1984PhefsTer10
XM_011538082.2:c.5922_5923insTTTTTTTTTTT	XP_011536384.1:p.Gly1975PhefsTer10
XM_017019090.1:c.5913_5914insTTTTTTTTTTT	XP_016874579.1:p.Gly1972PhefsTer10
NM_015335.5:c.5916_5917insTTTTTTTTTTT MANE Select	NP_056150.1:p.Gly1973PhefsTer10