Canonical Allele Identifier: CA2621144235

Gene: MED13L

Linked Data

• gnomAD v4: 12-115991541-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991542del , CM000674.2:g.115991542del	GRCh38
NC_000012.11:g.116429347del , CM000674.1:g.116429347del	GRCh37
NC_000012.10:g.114913730del	NCBI36
NG_023366.1:g.290645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3412del MANE Select	ENSP00000281928.3:p.Met1138Ter
ENST00000549786.2:c.2840del
ENST00000648379.1:n.1780del
ENST00000648737.1:n.3176del
ENST00000648825.1:n.152del
ENST00000648916.1:n.1423del
ENST00000649607.1:c.1596del
ENST00000650226.1:c.3412del	ENSP00000496981.1:p.Met1138Ter
ENST00000281928.7:c.3412del	ENSP00000281928.3:p.Met1138Ter
NM_015335.4:c.3412del	NP_056150.1:p.Met1138Ter
XM_011538080.1:c.3412del	XP_011536382.1:p.Met1138Ter
XM_011538081.1:c.3409del	XP_011536383.1:p.Met1137Ter
XM_011538082.1:c.3382del	XP_011536384.1:p.Met1128Ter
XM_011538080.2:c.3412del	XP_011536382.1:p.Met1138Ter
XM_011538081.2:c.3409del	XP_011536383.1:p.Met1137Ter
XM_011538082.2:c.3382del	XP_011536384.1:p.Met1128Ter
XM_017019090.1:c.3409del	XP_016874579.1:p.Met1137Ter
NM_015335.5:c.3412del MANE Select	NP_056150.1:p.Met1138Ter