Canonical Allele Identifier: CA608055808

Gene: MED13L

Linked Data

• dbSNP Id: rs775501740
• gnomAD v2: 12-116435050-TA-T
• gnomAD v3: 12-115997245-TA-T
• gnomAD v4: 12-115997245-TA-T
• MyVariant Identifiers: chr12:g.116435053del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997253del , CM000674.2:g.115997253del	GRCh38
NC_000012.11:g.116435058del , CM000674.1:g.116435058del	GRCh37
NC_000012.10:g.114919441del	NCBI36
NG_023366.1:g.284941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2570-16del MANE Select	ENSP00000281928.3:n.2570-16del
ENST00000548743.2:c.2540-16del	ENSP00000448553.2:n.2540-16del
ENST00000549786.2:c.1998-16del
ENST00000647927.1:n.2927del
ENST00000648173.1:n.1365-16del
ENST00000648379.1:n.938-16del
ENST00000648737.1:n.2334-16del
ENST00000648916.1:n.581-16del
ENST00000649607.1:c.757-19del
ENST00000650226.1:c.2570-16del	ENSP00000496981.1:n.2570-16del
ENST00000281928.7:c.2570-16del	ENSP00000281928.3:n.2570-16del
NM_015335.4:c.2570-16del	NP_056150.1:n.2570-16del
XM_011538080.1:c.2570-16del	XP_011536382.1:n.2570-16del
XM_011538081.1:c.2570-19del	XP_011536383.1:n.2570-19del
XM_011538082.1:c.2540-16del	XP_011536384.1:n.2540-16del
XM_011538080.2:c.2570-16del	XP_011536382.1:n.2570-16del
XM_011538081.2:c.2570-19del	XP_011536383.1:n.2570-19del
XM_011538082.2:c.2540-16del	XP_011536384.1:n.2540-16del
XM_017019090.1:c.2570-19del	XP_016874579.1:n.2570-19del
NM_015335.5:c.2570-16del MANE Select	NP_056150.1:n.2570-16del