Canonical Allele Identifier: CA2797589520

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982668_115982669insCCAAACACACCCAACAC , CM000674.2:g.115982668_115982669insCCAAACACACCCAACAC	GRCh38
NC_000012.11:g.116420473_116420474insCCAAACACACCCAACAC , CM000674.1:g.116420473_116420474insCCAAACACACCCAACAC	GRCh37
NC_000012.10:g.114904856_114904857insCCAAACACACCCAACAC	NCBI36
NG_023366.1:g.299518_299519insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-66_4956-65insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000281928.3:n.4956-66_4956-65insGTGTTGGGTGTGTTTGG
ENST00000549786.2:c.4384-66_4384-65insGTGTTGGGTGTGTTTGG
ENST00000648379.1:n.3324-66_3324-65insGTGTTGGGTGTGTTTGG
ENST00000648737.1:n.4720-66_4720-65insGTGTTGGGTGTGTTTGG
ENST00000648825.1:n.1696-66_1696-65insGTGTTGGGTGTGTTTGG
ENST00000648916.1:n.2967-66_2967-65insGTGTTGGGTGTGTTTGG
ENST00000649146.1:n.2133_2134insGTGTTGGGTGTGTTTGG
ENST00000649607.1:c.3140-66_3140-65insGTGTTGGGTGTGTTTGG
ENST00000649775.1:c.1453-74_1453-73insGTGTTGGGTGTGTTTGG
ENST00000650226.1:c.4956-66_4956-65insGTGTTGGGTGTGTTTGG	ENSP00000496981.1:n.4956-66_4956-65insGTGTTGGGTGTGTTTGG
ENST00000281928.7:c.4956-66_4956-65insGTGTTGGGTGTGTTTGG	ENSP00000281928.3:n.4956-66_4956-65insGTGTTGGGTGTGTTTGG
ENST00000549786.1:c.320-66_320-65insGTGTTGGGTGTGTTTGG
NM_015335.4:c.4956-66_4956-65insGTGTTGGGTGTGTTTGG	NP_056150.1:n.4956-66_4956-65insGTGTTGGGTGTGTTTGG
XM_011538080.1:c.4956-66_4956-65insGTGTTGGGTGTGTTTGG	XP_011536382.1:n.4956-66_4956-65insGTGTTGGGTGTGTTTGG
XM_011538081.1:c.4953-66_4953-65insGTGTTGGGTGTGTTTGG	XP_011536383.1:n.4953-66_4953-65insGTGTTGGGTGTGTTTGG
XM_011538082.1:c.4926-66_4926-65insGTGTTGGGTGTGTTTGG	XP_011536384.1:n.4926-66_4926-65insGTGTTGGGTGTGTTTGG
XM_011538080.2:c.4956-66_4956-65insGTGTTGGGTGTGTTTGG	XP_011536382.1:n.4956-66_4956-65insGTGTTGGGTGTGTTTGG
XM_011538081.2:c.4953-66_4953-65insGTGTTGGGTGTGTTTGG	XP_011536383.1:n.4953-66_4953-65insGTGTTGGGTGTGTTTGG
XM_011538082.2:c.4926-66_4926-65insGTGTTGGGTGTGTTTGG	XP_011536384.1:n.4926-66_4926-65insGTGTTGGGTGTGTTTGG
XM_017019090.1:c.4953-66_4953-65insGTGTTGGGTGTGTTTGG	XP_016874579.1:n.4953-66_4953-65insGTGTTGGGTGTGTTTGG
NM_015335.5:c.4956-66_4956-65insGTGTTGGGTGTGTTTGG MANE Select	NP_056150.1:n.4956-66_4956-65insGTGTTGGGTGTGTTTGG