Canonical Allele Identifier: CA608055781

Gene: MED13L

Linked Data

• dbSNP Id: rs1481610685
• gnomAD v2: 12-116429770-AAG-A
• gnomAD v4: 12-115991965-AAG-A
• MyVariant Identifiers: chr12:g.116429771_116429772del (hg19) ; chr12:g.115991966_115991967del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991969_115991970del , CM000674.2:g.115991969_115991970del	GRCh38
NC_000012.11:g.116429774_116429775del , CM000674.1:g.116429774_116429775del	GRCh37
NC_000012.10:g.114914157_114914158del	NCBI36
NG_023366.1:g.290220_290221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2997-10_2997-9del MANE Select	ENSP00000281928.3:n.2997-10_2997-9del
ENST00000548743.2:c.2967-10_2967-9del	ENSP00000448553.2:n.2967-10_2967-9del
ENST00000549786.2:c.2425-10_2425-9del
ENST00000648173.1:n.1792-10_1792-9del
ENST00000648379.1:n.1365-10_1365-9del
ENST00000648737.1:n.2761-10_2761-9del
ENST00000648916.1:n.1008-10_1008-9del
ENST00000649607.1:c.1181-10_1181-9del
ENST00000650226.1:c.2997-10_2997-9del	ENSP00000496981.1:n.2997-10_2997-9del
ENST00000281928.7:c.2997-10_2997-9del	ENSP00000281928.3:n.2997-10_2997-9del
NM_015335.4:c.2997-10_2997-9del	NP_056150.1:n.2997-10_2997-9del
XM_011538080.1:c.2997-10_2997-9del	XP_011536382.1:n.2997-10_2997-9del
XM_011538081.1:c.2994-10_2994-9del	XP_011536383.1:n.2994-10_2994-9del
XM_011538082.1:c.2967-10_2967-9del	XP_011536384.1:n.2967-10_2967-9del
XM_011538080.2:c.2997-10_2997-9del	XP_011536382.1:n.2997-10_2997-9del
XM_011538081.2:c.2994-10_2994-9del	XP_011536383.1:n.2994-10_2994-9del
XM_011538082.2:c.2967-10_2967-9del	XP_011536384.1:n.2967-10_2967-9del
XM_017019090.1:c.2994-10_2994-9del	XP_016874579.1:n.2994-10_2994-9del
NM_015335.5:c.2997-10_2997-9del MANE Select	NP_056150.1:n.2997-10_2997-9del