Canonical Allele Identifier: CA2621142329

Gene: MED13L

Linked Data

• gnomAD v4: 12-115984514-C-CTTGTAATGTTGGTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984514_115984515insTTGTAATGTTGGTTTG , CM000674.2:g.115984514_115984515insTTGTAATGTTGGTTTG	GRCh38
NC_000012.11:g.116422319_116422320insTTGTAATGTTGGTTTG , CM000674.1:g.116422319_116422320insTTGTAATGTTGGTTTG	GRCh37
NC_000012.10:g.114906702_114906703insTTGTAATGTTGGTTTG	NCBI36
NG_023366.1:g.297672_297673insCAAACCAACATTACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339-143_4339-142insCAAACCAACATTACAA MANE Select	ENSP00000281928.3:n.4339-143_4339-142insCAAACCAACATTACAA
ENST00000549786.2:c.3767-143_3767-142insCAAACCAACATTACAA
ENST00000648379.1:n.2707-143_2707-142insCAAACCAACATTACAA
ENST00000648737.1:n.4103-143_4103-142insCAAACCAACATTACAA
ENST00000648825.1:n.1079-143_1079-142insCAAACCAACATTACAA
ENST00000648916.1:n.2350-143_2350-142insCAAACCAACATTACAA
ENST00000649146.1:n.926_927insCAAACCAACATTACAA
ENST00000649607.1:c.2523-143_2523-142insCAAACCAACATTACAA
ENST00000649775.1:c.836-143_836-142insCAAACCAACATTACAA
ENST00000650091.1:n.2315-143_2315-142insCAAACCAACATTACAA
ENST00000650226.1:c.4339-143_4339-142insCAAACCAACATTACAA	ENSP00000496981.1:n.4339-143_4339-142insCAAACCAACATTACAA
ENST00000281928.7:c.4339-143_4339-142insCAAACCAACATTACAA	ENSP00000281928.3:n.4339-143_4339-142insCAAACCAACATTACAA
NM_015335.4:c.4339-143_4339-142insCAAACCAACATTACAA	NP_056150.1:n.4339-143_4339-142insCAAACCAACATTACAA
XM_011538080.1:c.4339-143_4339-142insCAAACCAACATTACAA	XP_011536382.1:n.4339-143_4339-142insCAAACCAACATTACAA
XM_011538081.1:c.4336-143_4336-142insCAAACCAACATTACAA	XP_011536383.1:n.4336-143_4336-142insCAAACCAACATTACAA
XM_011538082.1:c.4309-143_4309-142insCAAACCAACATTACAA	XP_011536384.1:n.4309-143_4309-142insCAAACCAACATTACAA
XM_011538080.2:c.4339-143_4339-142insCAAACCAACATTACAA	XP_011536382.1:n.4339-143_4339-142insCAAACCAACATTACAA
XM_011538081.2:c.4336-143_4336-142insCAAACCAACATTACAA	XP_011536383.1:n.4336-143_4336-142insCAAACCAACATTACAA
XM_011538082.2:c.4309-143_4309-142insCAAACCAACATTACAA	XP_011536384.1:n.4309-143_4309-142insCAAACCAACATTACAA
XM_017019090.1:c.4336-143_4336-142insCAAACCAACATTACAA	XP_016874579.1:n.4336-143_4336-142insCAAACCAACATTACAA
NM_015335.5:c.4339-143_4339-142insCAAACCAACATTACAA MANE Select	NP_056150.1:n.4339-143_4339-142insCAAACCAACATTACAA