Canonical Allele Identifier: CA952186739

Gene: MED13L

Linked Data

• dbSNP Id: rs1879480161
• gnomAD v3: 12-116012612-T-TTAA
• gnomAD v4: 12-116012612-T-TTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012612_116012613insTAA , CM000674.2:g.116012612_116012613insTAA	GRCh38
NC_000012.11:g.116450417_116450418insTAA , CM000674.1:g.116450417_116450418insTAA	GRCh37
NC_000012.10:g.114934800_114934801insTAA	NCBI36
NG_023366.1:g.269574_269575insTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1280+184_1280+185insTTA MANE Select	ENSP00000281928.3:n.1280+184_1280+185insTTA
ENST00000548743.2:c.1250+184_1250+185insTTA	ENSP00000448553.2:n.1250+184_1250+185insTTA
ENST00000549786.2:c.708+184_708+185insTTA
ENST00000647567.1:c.1187+184_1187+185insTTA	ENSP00000497136.1:n.1187+184_1187+185insTTA
ENST00000648737.1:n.1044+184_1044+185insTTA
ENST00000650226.1:c.1280+184_1280+185insTTA	ENSP00000496981.1:n.1280+184_1280+185insTTA
ENST00000281928.7:c.1280+184_1280+185insTTA	ENSP00000281928.3:n.1280+184_1280+185insTTA
NM_015335.4:c.1280+184_1280+185insTTA	NP_056150.1:n.1280+184_1280+185insTTA
XM_011538080.1:c.1280+184_1280+185insTTA	XP_011536382.1:n.1280+184_1280+185insTTA
XM_011538081.1:c.1280+184_1280+185insTTA	XP_011536383.1:n.1280+184_1280+185insTTA
XM_011538082.1:c.1250+184_1250+185insTTA	XP_011536384.1:n.1250+184_1250+185insTTA
XM_011538080.2:c.1280+184_1280+185insTTA	XP_011536382.1:n.1280+184_1280+185insTTA
XM_011538081.2:c.1280+184_1280+185insTTA	XP_011536383.1:n.1280+184_1280+185insTTA
XM_011538082.2:c.1250+184_1250+185insTTA	XP_011536384.1:n.1250+184_1250+185insTTA
XM_017019090.1:c.1280+184_1280+185insTTA	XP_016874579.1:n.1280+184_1280+185insTTA
NM_015335.5:c.1280+184_1280+185insTTA MANE Select	NP_056150.1:n.1280+184_1280+185insTTA