Canonical Allele Identifier: CA601193023
Community Standard Title: NM_004268.5(MED17):c.250+9dup
Gene: MED17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.93784772dup , CM000673.2:g.93784772dup GRCh38
NC_000011.9:g.93517938dup , CM000673.1:g.93517938dup GRCh37
NC_000011.8:g.93157586dup NCBI36
NG_028028.1:g.5534dup

Transcript Alleles

HGVS Amino-acid Change
NM_004268.5:c.250+9dup MANE Select NP_004259.3:n.250+9dup
ENST00000251871.9:c.250+9dup MANE Select ENSP00000251871.3:n.250+9dup
NM_004268.4:c.250+9dup NP_004259.3:n.250+9dup
ENST00000251871.7:c.250+9dup ENSP00000251871.3:n.250+9dup
ENST00000507258.4:n.338+9dup
ENST00000525026.6:n.471+9dup
ENST00000528786.2:c.190+9dup ENSP00000433626.2:n.190+9dup
ENST00000530819.1:c.250+9dup ENSP00000434459.1:n.250+9dup
ENST00000533133.5:c.250+9dup ENSP00000433090.1:n.250+9dup
ENST00000533133.6:c.250+9dup ENSP00000433090.2:n.250+9dup
ENST00000533359.5:c.250+9dup ENSP00000431524.1:n.250+9dup
ENST00000638294.1:c.250+9dup ENSP00000491675.1:n.250+9dup
ENST00000638487.1:c.250+9dup ENSP00000492294.1:n.250+9dup
ENST00000638518.1:c.186+9dup
ENST00000638767.1:c.811+9dup ENSP00000492220.1:n.811+9dup
ENST00000638790.1:c.88+9dup ENSP00000491457.1:n.88+9dup
ENST00000639189.1:c.250+9dup ENSP00000491770.1:n.250+9dup
ENST00000639457.1:c.250+9dup ENSP00000492391.1:n.250+9dup
ENST00000639523.1:c.24dup
ENST00000639596.1:c.250+9dup ENSP00000491918.1:n.250+9dup
ENST00000639724.1:c.250+9dup ENSP00000492625.1:n.250+9dup
ENST00000640027.1:c.250+9dup ENSP00000492872.1:n.250+9dup
ENST00000640451.1:c.250+9dup ENSP00000492530.1:n.250+9dup
ENST00000640473.1:c.250+9dup ENSP00000491371.1:n.250+9dup
ENST00000640521.1:c.250+9dup ENSP00000491108.1:n.250+9dup
ENST00000640583.1:n.537+9dup
ENST00000640804.1:n.537+9dup
XM_011543068.1:c.250+9dup XP_011541370.1:n.250+9dup
XR_247218.1:n.484+9dup
XR_947872.1:n.484+9dup