Canonical Allele Identifier: CA684026768

Gene: MED13L

Linked Data

• dbSNP Id: rs1398490576
• gnomAD v3: 12-115996725-G-GTAGAACACACCACAGTGGCA
• gnomAD v4: 12-115996725-G-GTAGAACACACCACAGTGGCA
• MyVariant Identifiers: chr12:g.116434530_116434531insTAGAACACACCACAGTGGCA (hg19) ; chr12:g.115996725_115996726insTAGAACACACCACAGTGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115996729_115996748dup , CM000674.2:g.115996729_115996748dup	GRCh38
NC_000012.11:g.116434534_116434553dup , CM000674.1:g.116434534_116434553dup	GRCh37
NC_000012.10:g.114918917_114918936dup	NCBI36
NG_023366.1:g.285442_285461dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2791-64_2791-45dup MANE Select	ENSP00000281928.3:n.2791-64_2791-45dup
ENST00000548743.2:c.2761-64_2761-45dup	ENSP00000448553.2:n.2761-64_2761-45dup
ENST00000549786.2:c.2219-64_2219-45dup
ENST00000647927.1:n.3164-64_3164-45dup
ENST00000648173.1:n.1586-64_1586-45dup
ENST00000648379.1:n.1159-64_1159-45dup
ENST00000648737.1:n.2555-64_2555-45dup
ENST00000648916.1:n.802-64_802-45dup
ENST00000649607.1:c.975-64_975-45dup
ENST00000650226.1:c.2791-64_2791-45dup	ENSP00000496981.1:n.2791-64_2791-45dup
ENST00000281928.7:c.2791-64_2791-45dup	ENSP00000281928.3:n.2791-64_2791-45dup
NM_015335.4:c.2791-64_2791-45dup	NP_056150.1:n.2791-64_2791-45dup
XM_011538080.1:c.2791-64_2791-45dup	XP_011536382.1:n.2791-64_2791-45dup
XM_011538081.1:c.2788-64_2788-45dup	XP_011536383.1:n.2788-64_2788-45dup
XM_011538082.1:c.2761-64_2761-45dup	XP_011536384.1:n.2761-64_2761-45dup
XM_011538080.2:c.2791-64_2791-45dup	XP_011536382.1:n.2791-64_2791-45dup
XM_011538081.2:c.2788-64_2788-45dup	XP_011536383.1:n.2788-64_2788-45dup
XM_011538082.2:c.2761-64_2761-45dup	XP_011536384.1:n.2761-64_2761-45dup
XM_017019090.1:c.2788-64_2788-45dup	XP_016874579.1:n.2788-64_2788-45dup
NM_015335.5:c.2791-64_2791-45dup MANE Select	NP_056150.1:n.2791-64_2791-45dup