Canonical Allele Identifier: CA16619442
Gene: MED13L HGNC NCBI

Linked Data

ClinVar Variation Id: 423751
ClinVar RCV Id: RCV000481300 RCV001265312
dbSNP Id: rs1064796611
MyVariant Identifiers: chr12:g.116434363_116434366del (hg19) chr12:g.115996558_115996561del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.115996562_115996565del , CM000674.2:g.115996562_115996565del GRCh38
NC_000012.11:g.116434367_116434370del , CM000674.1:g.116434367_116434370del GRCh37
NC_000012.10:g.114918750_114918753del NCBI36
NG_023366.1:g.285626_285629del

Transcript Alleles

HGVS Amino-acid change
ENST00000281928.9:c.2911_2914del MANE Select ENSP00000281928.3:p.Leu971PhefsTer?
ENST00000548743.2:c.2881_2884del ENSP00000448553.2:p.Leu961PhefsTer?
ENST00000549786.2:c.2339_2342del
ENST00000647927.1:n.3284_3287del
ENST00000648173.1:n.1706_1709del
ENST00000648379.1:n.1279_1282del
ENST00000648737.1:n.2675_2678del
ENST00000648916.1:n.922_925del
ENST00000649607.1:c.1095_1098del
ENST00000650226.1:c.2911_2914del ENSP00000496981.1:p.Leu971PhefsTer?
ENST00000281928.7:c.2911_2914del ENSP00000281928.3:p.Leu971PhefsTer?
NM_015335.4:c.2911_2914del NP_056150.1:p.Leu971PhefsTer?
XM_011538080.1:c.2911_2914del XP_011536382.1:p.Leu971PhefsTer?
XM_011538081.1:c.2908_2911del XP_011536383.1:p.Leu970PhefsTer?
XM_011538082.1:c.2881_2884del XP_011536384.1:p.Leu961PhefsTer?
XM_011538080.2:c.2911_2914del XP_011536382.1:p.Leu971PhefsTer?
XM_011538081.2:c.2908_2911del XP_011536383.1:p.Leu970PhefsTer?
XM_011538082.2:c.2881_2884del XP_011536384.1:p.Leu961PhefsTer?
XM_017019090.1:c.2908_2911del XP_016874579.1:p.Leu970PhefsTer?
NM_015335.5:c.2911_2914del MANE Select NP_056150.1:p.Leu971PhefsTer?
Search 100 bp 5'
Search 100 bp 3'