Canonical Allele Identifier: CA2658930946

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47074124dup , CM000664.2:g.47074124dup GRCh38
NC_000002.11:g.47301263dup , CM000664.1:g.47301263dup GRCh37
NC_000002.10:g.47154767dup NCBI36
NG_034143.1:g.162996dup
NG_034143.2:g.162996dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000698500.1:n.4611dup (TTC7A)
ENST00000698503.1:n.2784dup (TTC7A)
ENST00000319190.11:c.*201dup (TTC7A) MANE Select ENSP00000316699.5:n.*201dup
ENST00000651101.1:n.1376dup (TTC7A)
ENST00000651415.1:n.1569dup (TTC7A)
ENST00000652236.1:n.1479dup (TTC7A)
ENST00000652568.1:n.1451dup (TTC7A)
ENST00000319190.9:c.*201dup (TTC7A) ENSP00000316699.5:n.*201dup
ENST00000394850.6:c.*201dup (TTC7A) ENSP00000378320.2:n.*201dup
ENST00000409825.5:c.2726dup (TTC7A)
ENST00000422269.1:c.787-7985dup
ENST00000464527.2:n.399-7985dup (STPG4)
ENST00000482548.1:n.402-5566dup (STPG4)
ENST00000484061.5:n.1885dup (TTC7A)
ENST00000491786.5:n.2182dup (TTC7A)
ENST00000496939.1:n.416-27203dup (STPG4)
NM_001288951.1:c.*201dup (TTC7A) NP_001275880.1:n.*201dup
NM_001288953.1:c.*201dup (TTC7A) NP_001275882.1:n.*201dup
NM_001288955.1:c.*201dup (TTC7A) NP_001275884.1:n.*201dup
NM_020458.3:c.*201dup (TTC7A) NP_065191.2:n.*201dup
XM_005264439.2:c.*201dup (TTC7A) XP_005264496.1:n.*201dup
XM_011532998.1:c.*201dup (TTC7A) XP_011531300.1:n.*201dup
XM_011533000.1:c.*201dup (TTC7A) XP_011531302.1:n.*201dup
XM_011533001.1:c.*201dup (TTC7A) XP_011531303.1:n.*201dup
XM_005264439.4:c.*201dup (TTC7A) XP_005264496.1:n.*201dup
XM_011532998.3:c.*201dup (TTC7A) XP_011531300.1:n.*201dup
XM_011533000.3:c.*201dup (TTC7A) XP_011531302.1:n.*201dup
XM_011533001.3:c.*201dup (TTC7A) XP_011531303.1:n.*201dup
XM_017004524.1:c.*201dup (TTC7A) XP_016860013.1:n.*201dup
XM_017004525.1:c.*201dup (TTC7A) XP_016860014.1:n.*201dup
XM_017004526.1:c.*201dup (TTC7A) XP_016860015.1:n.*201dup
XM_024453013.1:c.*201dup (TTC7A) XP_024308781.1:n.*201dup
NM_020458.4:c.*201dup (TTC7A) MANE Select NP_065191.2:n.*201dup
NM_001288951.2:c.*201dup (TTC7A) NP_001275880.1:n.*201dup
NM_001288953.2:c.*201dup (TTC7A) NP_001275882.1:n.*201dup
NM_001288955.2:c.*201dup (TTC7A) NP_001275884.1:n.*201dup