Canonical Allele Identifier: CA2575306886
Gene: MED13L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.116013000_116013001dup , CM000674.2:g.116013000_116013001dup GRCh38
NC_000012.11:g.116450805_116450806dup , CM000674.1:g.116450805_116450806dup GRCh37
NC_000012.10:g.114935188_114935189dup NCBI36
NG_023366.1:g.269186_269187dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000281928.9:c.1176-100_1176-99dup MANE Select ENSP00000281928.3:n.1176-100_1176-99dup
ENST00000548743.2:c.1146-100_1146-99dup ENSP00000448553.2:n.1146-100_1146-99dup
ENST00000549786.2:c.604-100_604-99dup
ENST00000647567.1:c.1086-103_1086-102dup ENSP00000497136.1:n.1086-103_1086-102dup
ENST00000648737.1:n.940-100_940-99dup
ENST00000650226.1:c.1176-100_1176-99dup ENSP00000496981.1:n.1176-100_1176-99dup
ENST00000281928.7:c.1176-100_1176-99dup ENSP00000281928.3:n.1176-100_1176-99dup
NM_015335.4:c.1176-100_1176-99dup NP_056150.1:n.1176-100_1176-99dup
XM_011538080.1:c.1176-100_1176-99dup XP_011536382.1:n.1176-100_1176-99dup
XM_011538081.1:c.1176-100_1176-99dup XP_011536383.1:n.1176-100_1176-99dup
XM_011538082.1:c.1146-100_1146-99dup XP_011536384.1:n.1146-100_1146-99dup
XM_011538080.2:c.1176-100_1176-99dup XP_011536382.1:n.1176-100_1176-99dup
XM_011538081.2:c.1176-100_1176-99dup XP_011536383.1:n.1176-100_1176-99dup
XM_011538082.2:c.1146-100_1146-99dup XP_011536384.1:n.1146-100_1146-99dup
XM_017019090.1:c.1176-100_1176-99dup XP_016874579.1:n.1176-100_1176-99dup
NM_015335.5:c.1176-100_1176-99dup MANE Select NP_056150.1:n.1176-100_1176-99dup