Canonical Allele Identifier: CA2621144237

Gene: MED13L

Linked Data

• dbSNP Id: rs2137308384
• gnomAD v4: 12-115991891-GGGTGTGTTCATCTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991902_115991916del , CM000674.2:g.115991902_115991916del	GRCh38
NC_000012.11:g.116429707_116429721del , CM000674.1:g.116429707_116429721del	GRCh37
NC_000012.10:g.114914090_114914104del	NCBI36
NG_023366.1:g.290281_290295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3048_3062del MANE Select	ENSP00000281928.3:p.Gln1017_Pro1021del
ENST00000548743.2:c.3018_3032del	ENSP00000448553.2:p.Gln1007_Pro1011del
ENST00000549786.2:c.2476_2490del
ENST00000648173.1:n.1843_1857del
ENST00000648379.1:n.1416_1430del
ENST00000648737.1:n.2812_2826del
ENST00000648916.1:n.1059_1073del
ENST00000649607.1:c.1232_1246del
ENST00000650226.1:c.3048_3062del	ENSP00000496981.1:p.Gln1017_Pro1021del
ENST00000281928.7:c.3048_3062del	ENSP00000281928.3:p.Gln1017_Pro1021del
NM_015335.4:c.3048_3062del	NP_056150.1:p.Gln1017_Pro1021del
XM_011538080.1:c.3048_3062del	XP_011536382.1:p.Gln1017_Pro1021del
XM_011538081.1:c.3045_3059del	XP_011536383.1:p.Gln1016_Pro1020del
XM_011538082.1:c.3018_3032del	XP_011536384.1:p.Gln1007_Pro1011del
XM_011538080.2:c.3048_3062del	XP_011536382.1:p.Gln1017_Pro1021del
XM_011538081.2:c.3045_3059del	XP_011536383.1:p.Gln1016_Pro1020del
XM_011538082.2:c.3018_3032del	XP_011536384.1:p.Gln1007_Pro1011del
XM_017019090.1:c.3045_3059del	XP_016874579.1:p.Gln1016_Pro1020del
NM_015335.5:c.3048_3062del MANE Select	NP_056150.1:p.Gln1017_Pro1021del