Canonical Allele Identifier: CA2065381168

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012617_116012618delinsCA , CM000674.2:g.116012617_116012618delinsCA	GRCh38
NC_000012.11:g.116450422_116450423delinsCA , CM000674.1:g.116450422_116450423delinsCA	GRCh37
NC_000012.10:g.114934805_114934806delinsCA	NCBI36
NG_023366.1:g.269569_269570delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+179_1280+180delinsTG MANE Select	ENSP00000281928.3:n.1280+179_1280+180delinsTG
ENST00000548743.2:c.1250+179_1250+180delinsTG	ENSP00000448553.2:n.1250+179_1250+180delinsTG
ENST00000549786.2:c.708+179_708+180delinsTG
ENST00000647567.1:c.1187+179_1187+180delinsTG	ENSP00000497136.1:n.1187+179_1187+180delinsTG
ENST00000648737.1:n.1044+179_1044+180delinsTG
ENST00000650226.1:c.1280+179_1280+180delinsTG	ENSP00000496981.1:n.1280+179_1280+180delinsTG
ENST00000281928.7:c.1280+179_1280+180delinsTG	ENSP00000281928.3:n.1280+179_1280+180delinsTG
NM_015335.4:c.1280+179_1280+180delinsTG	NP_056150.1:n.1280+179_1280+180delinsTG
XM_011538080.1:c.1280+179_1280+180delinsTG	XP_011536382.1:n.1280+179_1280+180delinsTG
XM_011538081.1:c.1280+179_1280+180delinsTG	XP_011536383.1:n.1280+179_1280+180delinsTG
XM_011538082.1:c.1250+179_1250+180delinsTG	XP_011536384.1:n.1250+179_1250+180delinsTG
XM_011538080.2:c.1280+179_1280+180delinsTG	XP_011536382.1:n.1280+179_1280+180delinsTG
XM_011538081.2:c.1280+179_1280+180delinsTG	XP_011536383.1:n.1280+179_1280+180delinsTG
XM_011538082.2:c.1250+179_1250+180delinsTG	XP_011536384.1:n.1250+179_1250+180delinsTG
XM_017019090.1:c.1280+179_1280+180delinsTG	XP_016874579.1:n.1280+179_1280+180delinsTG
NM_015335.5:c.1280+179_1280+180delinsTG MANE Select	NP_056150.1:n.1280+179_1280+180delinsTG