Canonical Allele Identifier: CA2621144523

Gene: MED13L

Linked Data

• gnomAD v4: 12-115996874-GCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996876_115996878del , CM000674.2:g.115996876_115996878del	GRCh38
NC_000012.11:g.116434681_116434683del , CM000674.1:g.116434681_116434683del	GRCh37
NC_000012.10:g.114919064_114919066del	NCBI36
NG_023366.1:g.285310_285312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2790+133_2790+135del MANE Select	ENSP00000281928.3:n.2790+133_2790+135del
ENST00000548743.2:c.2760+133_2760+135del	ENSP00000448553.2:n.2760+133_2760+135del
ENST00000549786.2:c.2218+133_2218+135del
ENST00000647927.1:n.3163+133_3163+135del
ENST00000648173.1:n.1585+133_1585+135del
ENST00000648379.1:n.1158+133_1158+135del
ENST00000648737.1:n.2554+133_2554+135del
ENST00000648916.1:n.801+133_801+135del
ENST00000649607.1:c.974+133_974+135del
ENST00000650226.1:c.2790+133_2790+135del	ENSP00000496981.1:n.2790+133_2790+135del
ENST00000281928.7:c.2790+133_2790+135del	ENSP00000281928.3:n.2790+133_2790+135del
NM_015335.4:c.2790+133_2790+135del	NP_056150.1:n.2790+133_2790+135del
XM_011538080.1:c.2790+133_2790+135del	XP_011536382.1:n.2790+133_2790+135del
XM_011538081.1:c.2787+133_2787+135del	XP_011536383.1:n.2787+133_2787+135del
XM_011538082.1:c.2760+133_2760+135del	XP_011536384.1:n.2760+133_2760+135del
XM_011538080.2:c.2790+133_2790+135del	XP_011536382.1:n.2790+133_2790+135del
XM_011538081.2:c.2787+133_2787+135del	XP_011536383.1:n.2787+133_2787+135del
XM_011538082.2:c.2760+133_2760+135del	XP_011536384.1:n.2760+133_2760+135del
XM_017019090.1:c.2787+133_2787+135del	XP_016874579.1:n.2787+133_2787+135del
NM_015335.5:c.2790+133_2790+135del MANE Select	NP_056150.1:n.2790+133_2790+135del