Canonical Allele Identifier: CA684017833

Gene: MED13L

Linked Data

• dbSNP Id: rs1485069464
• gnomAD v3: 12-115982156-CAT-C
• gnomAD v4: 12-115982156-CAT-C
• MyVariant Identifiers: chr12:g.116419962_116419963del (hg19) ; chr12:g.115982157_115982158del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982158_115982159del , CM000674.2:g.115982158_115982159del	GRCh38
NC_000012.11:g.116419963_116419964del , CM000674.1:g.116419963_116419964del	GRCh37
NC_000012.10:g.114904346_114904347del	NCBI36
NG_023366.1:g.300029_300030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+226_5175+227del MANE Select	ENSP00000281928.3:n.5175+226_5175+227del
ENST00000549786.2:c.4829_4830del
ENST00000648379.1:n.3543+226_3543+227del
ENST00000648737.1:n.4939+226_4939+227del
ENST00000648825.1:n.2141_2142del
ENST00000648916.1:n.3186+226_3186+227del
ENST00000649146.1:n.2644_2645del
ENST00000649607.1:c.3359+226_3359+227del
ENST00000649775.1:c.1664+226_1664+227del
ENST00000650226.1:c.5175+226_5175+227del	ENSP00000496981.1:n.5175+226_5175+227del
ENST00000281928.7:c.5175+226_5175+227del	ENSP00000281928.3:n.5175+226_5175+227del
ENST00000549786.1:c.765_766del
ENST00000552340.1:c.207+226_207+227del	ENSP00000449876.1:n.207+226_207+227del
NM_015335.4:c.5175+226_5175+227del	NP_056150.1:n.5175+226_5175+227del
XM_011538080.1:c.5175+226_5175+227del	XP_011536382.1:n.5175+226_5175+227del
XM_011538081.1:c.5172+226_5172+227del	XP_011536383.1:n.5172+226_5172+227del
XM_011538082.1:c.5145+226_5145+227del	XP_011536384.1:n.5145+226_5145+227del
XM_011538080.2:c.5175+226_5175+227del	XP_011536382.1:n.5175+226_5175+227del
XM_011538081.2:c.5172+226_5172+227del	XP_011536383.1:n.5172+226_5172+227del
XM_011538082.2:c.5145+226_5145+227del	XP_011536384.1:n.5145+226_5145+227del
XM_017019090.1:c.5172+226_5172+227del	XP_016874579.1:n.5172+226_5172+227del
NM_015335.5:c.5175+226_5175+227del MANE Select	NP_056150.1:n.5175+226_5175+227del