Canonical Allele Identifier: CA2617968703
Gene: SOX5 HGNC NCBI

Linked Data

gnomAD v4: 12-23949500-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.23949504_23949505del , CM000674.2:g.23949504_23949505del GRCh38
NC_000012.11:g.24102438_24102439del , CM000674.1:g.24102438_24102439del GRCh37
NC_000012.10:g.23993705_23993706del NCBI36
NG_029612.1:g.617945_617946del
NG_029612.2:g.617945_617946del

Transcript Alleles

HGVS Amino-acid change
ENST00000704298.1:c.-1-53478_-1-53477del ENSP00000515822.1:n.-1-53478_-1-53477del
ENST00000704299.1:c.-119-5214_-119-5213del ENSP00000515823.1:n.-119-5214_-119-5213de...
ENST00000704300.1:c.-1-53478_-1-53477del ENSP00000515824.1:n.-1-53478_-1-53477del
ENST00000446891.7:c.-1-53478_-1-53477del ENSP00000494627.1:n.-1-53478_-1-53477del
ENST00000451604.7:c.38+62_38+63del MANE Select ENSP00000398273.2:n.38+62_38+63del
ENST00000536729.2:c.-1-53478_-1-53477del ENSP00000496161.1:n.-1-53478_-1-53477del
ENST00000646273.1:c.-1-53478_-1-53477del ENSP00000493866.1:n.-1-53478_-1-53477del
ENST00000659413.1:c.-1-53478_-1-53477del ENSP00000499309.1:n.-1-53478_-1-53477del
ENST00000367206.7:c.8+1367_8+1368del ENSP00000356174.3:n.8+1367_8+1368del
ENST00000381381.6:c.-2+62_-2+63del ENSP00000370788.2:n.-2+62_-2+63del
ENST00000441133.2:c.38+62_38+63del ENSP00000393240.2:n.38+62_38+63del
ENST00000451604.6:c.38+62_38+63del ENSP00000398273.2:n.38+62_38+63del
ENST00000536850.1:n.29+62_29+63del
ENST00000537393.5:c.38+62_38+63del ENSP00000439832.1:n.38+62_38+63del
ENST00000541847.5:c.8+1367_8+1368del ENSP00000442119.1:n.8+1367_8+1368del
ENST00000545921.5:c.8+1367_8+1368del ENSP00000443520.1:n.8+1367_8+1368del
NM_001261414.1:c.-1-53478_-1-53477del NP_001248343.1:n.-1-53478_-1-53477del
NM_001261415.1:c.8+1367_8+1368del NP_001248344.1:n.8+1367_8+1368del
NM_006940.4:c.38+62_38+63del NP_008871.3:n.38+62_38+63del
NM_152989.3:c.-1-53478_-1-53477del NP_694534.1:n.-1-53478_-1-53477del
XM_006719149.2:c.-1-53478_-1-53477del XP_006719212.1:n.-1-53478_-1-53477del
XM_011520831.1:c.38+62_38+63del XP_011519133.1:n.38+62_38+63del
XM_011520832.1:c.38+62_38+63del XP_011519134.1:n.38+62_38+63del
XM_011520833.1:c.8+1367_8+1368del XP_011519135.1:n.8+1367_8+1368del
XM_011520834.1:c.-1-53478_-1-53477del XP_011519136.1:n.-1-53478_-1-53477del
XM_011520835.1:c.-1-53478_-1-53477del XP_011519137.1:n.-1-53478_-1-53477del
XM_011520836.1:c.1-53479_1-53478del XP_011519138.1:n.1-53479_1-53478del
XM_011520838.1:c.38+62_38+63del XP_011519140.1:n.38+62_38+63del
XM_011520839.1:c.-1-53478_-1-53477del XP_011519141.1:n.-1-53478_-1-53477del
NM_001261414.2:c.-1-53478_-1-53477del NP_001248343.1:n.-1-53478_-1-53477del
NM_001261415.2:c.8+1367_8+1368del NP_001248344.1:n.8+1367_8+1368del
NM_001330785.1:c.38+62_38+63del NP_001317714.1:n.38+62_38+63del
NM_006940.5:c.38+62_38+63del NP_008871.3:n.38+62_38+63del
NM_152989.4:c.-1-53478_-1-53477del NP_694534.1:n.-1-53478_-1-53477del
XM_011520832.2:c.38+62_38+63del XP_011519134.1:n.38+62_38+63del
XM_011520833.2:c.8+1367_8+1368del XP_011519135.1:n.8+1367_8+1368del
XM_011520834.2:c.-1-53478_-1-53477del XP_011519136.1:n.-1-53478_-1-53477del
XM_011520835.2:c.-1-53478_-1-53477del XP_011519137.1:n.-1-53478_-1-53477del
XM_011520838.2:c.38+62_38+63del XP_011519140.1:n.38+62_38+63del
XM_017019888.1:c.230+62_230+63del XP_016875377.1:n.230+62_230+63del
XM_017019889.1:c.230+62_230+63del XP_016875378.1:n.230+62_230+63del
XM_017019890.1:c.-1-53478_-1-53477del XP_016875379.1:n.-1-53478_-1-53477del
XM_017019891.1:c.-1-53478_-1-53477del XP_016875380.1:n.-1-53478_-1-53477del
XM_017019892.1:c.-1-53478_-1-53477del XP_016875381.1:n.-1-53478_-1-53477del
XM_017019893.1:c.-1-53478_-1-53477del XP_016875382.1:n.-1-53478_-1-53477del
XM_017019894.1:c.-1-53478_-1-53477del XP_016875383.1:n.-1-53478_-1-53477del
XM_017019895.1:c.-2+891_-2+892del XP_016875384.1:n.-2+891_-2+892del
XM_017019896.1:c.-1-53478_-1-53477del XP_016875385.1:n.-1-53478_-1-53477del
XM_017019897.1:c.-1-53478_-1-53477del XP_016875386.1:n.-1-53478_-1-53477del
XM_017019898.1:c.-1-53478_-1-53477del XP_016875387.1:n.-1-53478_-1-53477del
XM_017019899.1:c.-1-53478_-1-53477del XP_016875388.1:n.-1-53478_-1-53477del
XM_017019900.1:c.-2+891_-2+892del XP_016875389.1:n.-2+891_-2+892del
XM_017019901.1:c.-5333_-5332del XP_016875390.1:n.-5333_-5332del
XM_017019902.1:c.38+62_38+63del XP_016875391.1:n.38+62_38+63del
XM_017019903.1:c.38+62_38+63del XP_016875392.1:n.38+62_38+63del
XM_024449150.1:c.-1-53478_-1-53477del XP_024304918.1:n.-1-53478_-1-53477del
XM_024449151.1:c.-1-53478_-1-53477del XP_024304919.1:n.-1-53478_-1-53477del
XM_024449152.1:c.-1-53478_-1-53477del XP_024304920.1:n.-1-53478_-1-53477del
XM_024449153.1:c.-1-53478_-1-53477del XP_024304921.1:n.-1-53478_-1-53477del
XM_024449154.1:c.-1-53478_-1-53477del XP_024304922.1:n.-1-53478_-1-53477del
XM_024449155.1:c.-1-53478_-1-53477del XP_024304923.1:n.-1-53478_-1-53477del
XM_024449157.1:c.-1-53478_-1-53477del XP_024304925.1:n.-1-53478_-1-53477del
XM_024449158.1:c.-1-53478_-1-53477del XP_024304926.1:n.-1-53478_-1-53477del
XM_024449159.1:c.-1-53478_-1-53477del XP_024304927.1:n.-1-53478_-1-53477del
XM_024449160.1:c.-1-53478_-1-53477del XP_024304928.1:n.-1-53478_-1-53477del
XM_024449161.1:c.-1-53478_-1-53477del XP_024304929.1:n.-1-53478_-1-53477del
XM_024449163.1:c.-1-53478_-1-53477del XP_024304931.1:n.-1-53478_-1-53477del
XM_024449164.1:c.-1-53478_-1-53477del XP_024304932.1:n.-1-53478_-1-53477del
XM_024449165.1:c.-1-53478_-1-53477del XP_024304933.1:n.-1-53478_-1-53477del
NM_006940.6:c.38+62_38+63del MANE Select NP_008871.3:n.38+62_38+63del
NM_001261414.3:c.-1-53478_-1-53477del NP_001248343.1:n.-1-53478_-1-53477del
NM_001330785.2:c.38+62_38+63del NP_001317714.1:n.38+62_38+63del
NM_152989.5:c.-1-53478_-1-53477del NP_694534.1:n.-1-53478_-1-53477del
NM_001261415.3:c.8+1367_8+1368del NP_001248344.1:n.8+1367_8+1368del
Search 100 bp 5'
Search 100 bp 3'