Canonical Allele Identifier: CA2575306640

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991941del , CM000674.2:g.115991941del	GRCh38
NC_000012.11:g.116429746del , CM000674.1:g.116429746del	GRCh37
NC_000012.10:g.114914129del	NCBI36
NG_023366.1:g.290248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3015del MANE Select	ENSP00000281928.3:p.Ser1006AlafsTer2
ENST00000548743.2:c.2985del	ENSP00000448553.2:p.Ser996AlafsTer2
ENST00000549786.2:c.2443del
ENST00000648173.1:n.1810del
ENST00000648379.1:n.1383del
ENST00000648737.1:n.2779del
ENST00000648916.1:n.1026del
ENST00000649607.1:c.1199del
ENST00000650226.1:c.3015del	ENSP00000496981.1:p.Ser1006AlafsTer2
ENST00000281928.7:c.3015del	ENSP00000281928.3:p.Ser1006AlafsTer2
NM_015335.4:c.3015del	NP_056150.1:p.Ser1006AlafsTer2
XM_011538080.1:c.3015del	XP_011536382.1:p.Ser1006AlafsTer2
XM_011538081.1:c.3012del	XP_011536383.1:p.Ser1005AlafsTer2
XM_011538082.1:c.2985del	XP_011536384.1:p.Ser996AlafsTer2
XM_011538080.2:c.3015del	XP_011536382.1:p.Ser1006AlafsTer2
XM_011538081.2:c.3012del	XP_011536383.1:p.Ser1005AlafsTer2
XM_011538082.2:c.2985del	XP_011536384.1:p.Ser996AlafsTer2
XM_017019090.1:c.3012del	XP_016874579.1:p.Ser1005AlafsTer2
NM_015335.5:c.3015del MANE Select	NP_056150.1:p.Ser1006AlafsTer2