Canonical Allele Identifier: CA2065373896

Gene: MED13L

Linked Data

• dbSNP Id: rs1057518262

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983496dup , CM000674.2:g.115983496dup	GRCh38
NC_000012.11:g.116421301dup , CM000674.1:g.116421301dup	GRCh37
NC_000012.10:g.114905684dup	NCBI36
NG_023366.1:g.298692dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4577dup MANE Select	ENSP00000281928.3:p.Pro1527ThrfsTer2
ENST00000549786.2:c.4005dup
ENST00000648379.1:n.2945dup
ENST00000648737.1:n.4341dup
ENST00000648825.1:n.1317dup
ENST00000648916.1:n.2588dup
ENST00000649146.1:n.1307dup
ENST00000649607.1:c.2761dup
ENST00000649775.1:c.1074dup
ENST00000650226.1:c.4577dup	ENSP00000496981.1:p.Pro1527ThrfsTer2
ENST00000281928.7:c.4577dup	ENSP00000281928.3:p.Pro1527ThrfsTer2
NM_015335.4:c.4577dup	NP_056150.1:p.Pro1527ThrfsTer2
XM_011538080.1:c.4577dup	XP_011536382.1:p.Pro1527ThrfsTer2
XM_011538081.1:c.4574dup	XP_011536383.1:p.Pro1526ThrfsTer2
XM_011538082.1:c.4547dup	XP_011536384.1:p.Pro1517ThrfsTer2
XM_011538080.2:c.4577dup	XP_011536382.1:p.Pro1527ThrfsTer2
XM_011538081.2:c.4574dup	XP_011536383.1:p.Pro1526ThrfsTer2
XM_011538082.2:c.4547dup	XP_011536384.1:p.Pro1517ThrfsTer2
XM_017019090.1:c.4574dup	XP_016874579.1:p.Pro1526ThrfsTer2
NM_015335.5:c.4577dup MANE Select	NP_056150.1:p.Pro1527ThrfsTer2