Canonical Allele Identifier: CA607656063

Gene: MED13L

Linked Data

• dbSNP Id: rs1203962273
• gnomAD v2: 12-116450608-CAAG-C
• gnomAD v4: 12-116012803-CAAG-C
• MyVariant Identifiers: chr12:g.116450609_116450611del (hg19) ; chr12:g.116012804_116012806del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012806_116012808del , CM000674.2:g.116012806_116012808del	GRCh38
NC_000012.11:g.116450611_116450613del , CM000674.1:g.116450611_116450613del	GRCh37
NC_000012.10:g.114934994_114934996del	NCBI36
NG_023366.1:g.269381_269383del

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.1271_1273del MANE Select	ENSP00000281928.3:p.Ser424del
ENST00000548743.2:c.1241_1243del	ENSP00000448553.2:p.Ser414del
ENST00000549786.2:c.699_701del
ENST00000647567.1:c.1178_1180del	ENSP00000497136.1:p.Ser393del
ENST00000648737.1:n.1035_1037del
ENST00000650226.1:c.1271_1273del	ENSP00000496981.1:p.Ser424del
ENST00000281928.7:c.1271_1273del	ENSP00000281928.3:p.Ser424del
NM_015335.4:c.1271_1273del	NP_056150.1:p.Ser424del
XM_011538080.1:c.1271_1273del	XP_011536382.1:p.Ser424del
XM_011538081.1:c.1271_1273del	XP_011536383.1:p.Ser424del
XM_011538082.1:c.1241_1243del	XP_011536384.1:p.Ser414del
XM_011538080.2:c.1271_1273del	XP_011536382.1:p.Ser424del
XM_011538081.2:c.1271_1273del	XP_011536383.1:p.Ser424del
XM_011538082.2:c.1241_1243del	XP_011536384.1:p.Ser414del
XM_017019090.1:c.1271_1273del	XP_016874579.1:p.Ser424del
NM_015335.5:c.1271_1273del MANE Select	NP_056150.1:p.Ser424del