Canonical Allele Identifier: CA2065396223

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996851_115996855delinsCTATT , CM000674.2:g.115996851_115996855delinsCTATT	GRCh38
NC_000012.11:g.116434656_116434660delinsCTATT , CM000674.1:g.116434656_116434660delinsCTATT	GRCh37
NC_000012.10:g.114919039_114919043delinsCTATT	NCBI36
NG_023366.1:g.285332_285336delinsAATAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2790+155_2790+159delinsAATAG MANE Select	ENSP00000281928.3:n.2790+155_2790+159delinsAATAG
ENST00000548743.2:c.2760+155_2760+159delinsAATAG	ENSP00000448553.2:n.2760+155_2760+159delinsAATAG
ENST00000549786.2:c.2218+155_2218+159delinsAATAG
ENST00000647927.1:n.3163+155_3163+159delinsAATAG
ENST00000648173.1:n.1585+155_1585+159delinsAATAG
ENST00000648379.1:n.1158+155_1158+159delinsAATAG
ENST00000648737.1:n.2554+155_2554+159delinsAATAG
ENST00000648916.1:n.801+155_801+159delinsAATAG
ENST00000649607.1:c.974+155_974+159delinsAATAG
ENST00000650226.1:c.2790+155_2790+159delinsAATAG	ENSP00000496981.1:n.2790+155_2790+159delinsAATAG
ENST00000281928.7:c.2790+155_2790+159delinsAATAG	ENSP00000281928.3:n.2790+155_2790+159delinsAATAG
NM_015335.4:c.2790+155_2790+159delinsAATAG	NP_056150.1:n.2790+155_2790+159delinsAATAG
XM_011538080.1:c.2790+155_2790+159delinsAATAG	XP_011536382.1:n.2790+155_2790+159delinsAATAG
XM_011538081.1:c.2787+155_2787+159delinsAATAG	XP_011536383.1:n.2787+155_2787+159delinsAATAG
XM_011538082.1:c.2760+155_2760+159delinsAATAG	XP_011536384.1:n.2760+155_2760+159delinsAATAG
XM_011538080.2:c.2790+155_2790+159delinsAATAG	XP_011536382.1:n.2790+155_2790+159delinsAATAG
XM_011538081.2:c.2787+155_2787+159delinsAATAG	XP_011536383.1:n.2787+155_2787+159delinsAATAG
XM_011538082.2:c.2760+155_2760+159delinsAATAG	XP_011536384.1:n.2760+155_2760+159delinsAATAG
XM_017019090.1:c.2787+155_2787+159delinsAATAG	XP_016874579.1:n.2787+155_2787+159delinsAATAG
NM_015335.5:c.2790+155_2790+159delinsAATAG MANE Select	NP_056150.1:n.2790+155_2790+159delinsAATAG