Canonical Allele Identifier: CA607650527

Gene: MED13L

Linked Data

• dbSNP Id: rs1565987555
• gnomAD v2: 12-116413164-T-TCAGAGTTATTTATCACTTATAAGACAAACACTAGAAATTCCAAAGAACCTATCCATGCTGTACCCA
• gnomAD v3: 12-115975359-T-TCAGAGTTATTTATCACTTATAAGACAAACACTAGAAATTCCAAAGAACCTATCCATGCTGTACCCA
• gnomAD v4: 12-115975359-T-TCAGAGTTATTTATCACTTATAAGACAAACACTAGAAATTCCAAAGAACCTATCCATGCTGTACCCA
• MyVariant Identifiers: chr12:g.116413164_116413165insCAGAGTTATTTATCACTTATAAGACAAACACTAGAAATTCCAAAGAACCTATCCATGCTGTACCCA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975361_115975426dup , CM000674.2:g.115975361_115975426dup	GRCh38
NC_000012.11:g.116413166_116413231dup , CM000674.1:g.116413166_116413231dup	GRCh37
NC_000012.10:g.114897549_114897614dup	NCBI36
NG_023366.1:g.306762_306827dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588+90_5589-47dup MANE Select	ENSP00000281928.3:n.5588+90_5589-47dup
ENST00000548694.2:n.467_532dup
ENST00000648379.1:n.3956+90_3957-47dup
ENST00000648737.1:n.5352+90_5353-47dup
ENST00000648825.1:n.3773+90_3774-47dup
ENST00000648916.1:n.3599+90_3600-47dup
ENST00000649607.1:c.3772+90_3773-47dup
ENST00000649775.1:c.2077+90_2078-47dup
ENST00000650226.1:c.5589-76_5589-11dup	ENSP00000496981.1:n.5589-76_5589-11dup
ENST00000281928.7:c.5588+90_5589-47dup	ENSP00000281928.3:n.5588+90_5589-47dup
ENST00000548694.1:n.467_532dup
ENST00000552447.1:c.166-76_166-11dup
NM_015335.4:c.5588+90_5589-47dup	NP_056150.1:n.5588+90_5589-47dup
XM_011538080.1:c.5589-76_5589-11dup	XP_011536382.1:n.5589-76_5589-11dup
XM_011538081.1:c.5586-76_5586-11dup	XP_011536383.1:n.5586-76_5586-11dup
XM_011538082.1:c.5559-76_5559-11dup	XP_011536384.1:n.5559-76_5559-11dup
XM_011538080.2:c.5589-76_5589-11dup	XP_011536382.1:n.5589-76_5589-11dup
XM_011538081.2:c.5586-76_5586-11dup	XP_011536383.1:n.5586-76_5586-11dup
XM_011538082.2:c.5559-76_5559-11dup	XP_011536384.1:n.5559-76_5559-11dup
XM_017019090.1:c.5585+90_5586-47dup	XP_016874579.1:n.5585+90_5586-47dup
NM_015335.5:c.5588+90_5589-47dup MANE Select	NP_056150.1:n.5588+90_5589-47dup