Canonical Allele Identifier: CA684017837

Gene: MED13L

Linked Data

• dbSNP Id: rs1314701077
• gnomAD v3: 12-115982158-T-TA
• gnomAD v4: 12-115982158-T-TA
• MyVariant Identifiers: chr12:g.116419963_116419964insA (hg19) ; chr12:g.115982158_115982159insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982161dup , CM000674.2:g.115982161dup	GRCh38
NC_000012.11:g.116419966dup , CM000674.1:g.116419966dup	GRCh37
NC_000012.10:g.114904349dup	NCBI36
NG_023366.1:g.300028dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5175+225dup MANE Select	ENSP00000281928.3:n.5175+225dup
ENST00000549786.2:c.4828dup
ENST00000648379.1:n.3543+225dup
ENST00000648737.1:n.4939+225dup
ENST00000648825.1:n.2140dup
ENST00000648916.1:n.3186+225dup
ENST00000649146.1:n.2643dup
ENST00000649607.1:c.3359+225dup
ENST00000649775.1:c.1664+225dup
ENST00000650226.1:c.5175+225dup	ENSP00000496981.1:n.5175+225dup
ENST00000281928.7:c.5175+225dup	ENSP00000281928.3:n.5175+225dup
ENST00000549786.1:c.764dup
ENST00000552340.1:c.207+225dup	ENSP00000449876.1:n.207+225dup
NM_015335.4:c.5175+225dup	NP_056150.1:n.5175+225dup
XM_011538080.1:c.5175+225dup	XP_011536382.1:n.5175+225dup
XM_011538081.1:c.5172+225dup	XP_011536383.1:n.5172+225dup
XM_011538082.1:c.5145+225dup	XP_011536384.1:n.5145+225dup
XM_011538080.2:c.5175+225dup	XP_011536382.1:n.5175+225dup
XM_011538081.2:c.5172+225dup	XP_011536383.1:n.5172+225dup
XM_011538082.2:c.5145+225dup	XP_011536384.1:n.5145+225dup
XM_017019090.1:c.5172+225dup	XP_016874579.1:n.5172+225dup
NM_015335.5:c.5175+225dup MANE Select	NP_056150.1:n.5175+225dup