Canonical Allele Identifier: CA952183368

Gene: MED13L

Linked Data

• dbSNP Id: rs2137358379
• gnomAD v3: 12-116002911-CAGATAA-C
• gnomAD v4: 12-116002911-CAGATAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116002920_116002925del , CM000674.2:g.116002920_116002925del	GRCh38
NC_000012.11:g.116440725_116440730del , CM000674.1:g.116440725_116440730del	GRCh37
NC_000012.10:g.114925108_114925113del	NCBI36
NG_023366.1:g.279270_279275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2569+86_2569+91del MANE Select	ENSP00000281928.3:n.2569+86_2569+91del
ENST00000548743.2:c.2539+86_2539+91del	ENSP00000448553.2:n.2539+86_2539+91del
ENST00000549786.2:c.1997+86_1997+91del
ENST00000648173.1:n.1364+86_1364+91del
ENST00000648379.1:n.937+86_937+91del
ENST00000648737.1:n.2333+86_2333+91del
ENST00000648916.1:n.580+86_580+91del
ENST00000649607.1:c.756+86_756+91del
ENST00000650226.1:c.2569+86_2569+91del	ENSP00000496981.1:n.2569+86_2569+91del
ENST00000281928.7:c.2569+86_2569+91del	ENSP00000281928.3:n.2569+86_2569+91del
NM_015335.4:c.2569+86_2569+91del	NP_056150.1:n.2569+86_2569+91del
XM_011538080.1:c.2569+86_2569+91del	XP_011536382.1:n.2569+86_2569+91del
XM_011538081.1:c.2569+86_2569+91del	XP_011536383.1:n.2569+86_2569+91del
XM_011538082.1:c.2539+86_2539+91del	XP_011536384.1:n.2539+86_2539+91del
XM_011538080.2:c.2569+86_2569+91del	XP_011536382.1:n.2569+86_2569+91del
XM_011538081.2:c.2569+86_2569+91del	XP_011536383.1:n.2569+86_2569+91del
XM_011538082.2:c.2539+86_2539+91del	XP_011536384.1:n.2539+86_2539+91del
XM_017019090.1:c.2569+86_2569+91del	XP_016874579.1:n.2569+86_2569+91del
NM_015335.5:c.2569+86_2569+91del MANE Select	NP_056150.1:n.2569+86_2569+91del