Canonical Allele Identifier: CA2602970091

Gene: MED13L

Linked Data

• dbSNP Id: rs2137360397
• gnomAD v3: 12-116003339-GAGCTTGCAGACCTTA-G
• gnomAD v4: 12-116003339-GAGCTTGCAGACCTTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003343_116003357del , CM000674.2:g.116003343_116003357del	GRCh38
NC_000012.11:g.116441148_116441162del , CM000674.1:g.116441148_116441162del	GRCh37
NC_000012.10:g.114925531_114925545del	NCBI36
NG_023366.1:g.278833_278847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2470-252_2470-238del MANE Select	ENSP00000281928.3:n.2470-252_2470-238del
ENST00000548743.2:c.2440-252_2440-238del	ENSP00000448553.2:n.2440-252_2440-238del
ENST00000549786.2:c.1898-252_1898-238del
ENST00000648173.1:n.1265-252_1265-238del
ENST00000648379.1:n.586_600del
ENST00000648737.1:n.2234-252_2234-238del
ENST00000648916.1:n.481-252_481-238del
ENST00000649607.1:c.657-252_657-238del
ENST00000650226.1:c.2470-252_2470-238del	ENSP00000496981.1:n.2470-252_2470-238del
ENST00000281928.7:c.2470-252_2470-238del	ENSP00000281928.3:n.2470-252_2470-238del
NM_015335.4:c.2470-252_2470-238del	NP_056150.1:n.2470-252_2470-238del
XM_011538080.1:c.2470-252_2470-238del	XP_011536382.1:n.2470-252_2470-238del
XM_011538081.1:c.2470-252_2470-238del	XP_011536383.1:n.2470-252_2470-238del
XM_011538082.1:c.2440-252_2440-238del	XP_011536384.1:n.2440-252_2440-238del
XM_011538080.2:c.2470-252_2470-238del	XP_011536382.1:n.2470-252_2470-238del
XM_011538081.2:c.2470-252_2470-238del	XP_011536383.1:n.2470-252_2470-238del
XM_011538082.2:c.2440-252_2440-238del	XP_011536384.1:n.2440-252_2440-238del
XM_017019090.1:c.2470-252_2470-238del	XP_016874579.1:n.2470-252_2470-238del
NM_015335.5:c.2470-252_2470-238del MANE Select	NP_056150.1:n.2470-252_2470-238del