Canonical Allele Identifier: CA2065370825

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982156_115982158delinsCAT , CM000674.2:g.115982156_115982158delinsCAT	GRCh38
NC_000012.11:g.116419961_116419963delinsCAT , CM000674.1:g.116419961_116419963delinsCAT	GRCh37
NC_000012.10:g.114904344_114904346delinsCAT	NCBI36
NG_023366.1:g.300029_300031delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+226_5175+228delinsATG MANE Select	ENSP00000281928.3:n.5175+226_5175+228delinsATG
ENST00000549786.2:c.4829_4831delinsATG
ENST00000648379.1:n.3543+226_3543+228delinsATG
ENST00000648737.1:n.4939+226_4939+228delinsATG
ENST00000648825.1:n.2141_2143delinsATG
ENST00000648916.1:n.3186+226_3186+228delinsATG
ENST00000649146.1:n.2644_2646delinsATG
ENST00000649607.1:c.3359+226_3359+228delinsATG
ENST00000649775.1:c.1664+226_1664+228delinsATG
ENST00000650226.1:c.5175+226_5175+228delinsATG	ENSP00000496981.1:n.5175+226_5175+228delinsATG
ENST00000281928.7:c.5175+226_5175+228delinsATG	ENSP00000281928.3:n.5175+226_5175+228delinsATG
ENST00000549786.1:c.765_767delinsATG
ENST00000552340.1:c.207+226_207+228delinsATG	ENSP00000449876.1:n.207+226_207+228delinsATG
NM_015335.4:c.5175+226_5175+228delinsATG	NP_056150.1:n.5175+226_5175+228delinsATG
XM_011538080.1:c.5175+226_5175+228delinsATG	XP_011536382.1:n.5175+226_5175+228delinsATG
XM_011538081.1:c.5172+226_5172+228delinsATG	XP_011536383.1:n.5172+226_5172+228delinsATG
XM_011538082.1:c.5145+226_5145+228delinsATG	XP_011536384.1:n.5145+226_5145+228delinsATG
XM_011538080.2:c.5175+226_5175+228delinsATG	XP_011536382.1:n.5175+226_5175+228delinsATG
XM_011538081.2:c.5172+226_5172+228delinsATG	XP_011536383.1:n.5172+226_5172+228delinsATG
XM_011538082.2:c.5145+226_5145+228delinsATG	XP_011536384.1:n.5145+226_5145+228delinsATG
XM_017019090.1:c.5172+226_5172+228delinsATG	XP_016874579.1:n.5172+226_5172+228delinsATG
NM_015335.5:c.5175+226_5175+228delinsATG MANE Select	NP_056150.1:n.5175+226_5175+228delinsATG