Canonical Allele Identifier: CA2640320100

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80214763_80214780dup , CM000679.2:g.80214763_80214780dup GRCh38
NC_000017.10:g.78188562_78188579dup , CM000679.1:g.78188562_78188579dup GRCh37
NC_000017.9:g.75803157_75803174dup NCBI36
NG_008229.1:g.10623_10640dup

Transcript Alleles

HGVS Amino-acid change
ENST00000703570.1:n.2845-1103_2845-1086dup (CARD14)
ENST00000326317.11:c.356-13_360dup (SGSH)
ENST00000326317.10:c.356-13_360dup (SGSH)
ENST00000570427.1:c.361_378dup (SGSH) ENSP00000459765.1:p.Ile126_Ile127insSerSe...
ENST00000570923.1:c.391-13_395dup (SGSH)
ENST00000571051.5:n.375+255_375+272dup (SGSH)
ENST00000571675.5:n.376-13_380dup (SGSH)
ENST00000572208.5:n.373+255_373+272dup (SGSH)
ENST00000573150.5:c.250-13_254dup (SGSH)
ENST00000574505.5:c.301-99_301-82dup (SGSH)
ENST00000575282.5:n.365-13_369dup (SGSH)
ENST00000576707.5:c.95-13_99dup (SGSH)
ENST00000576941.5:c.250-450_250-433dup (SGSH) ENSP00000461160.1:n.250-450_250-433dup
NM_000199.3:c.356-13_360dup (SGSH)
XM_005257582.2:c.356-13_360dup (SGSH)
XM_005257583.3:c.356-13_360dup (SGSH)
XM_011525126.1:c.356-13_360dup (SGSH)
XM_011525127.1:c.356-13_360dup (SGSH)
XR_934532.1:n.376-13_380dup (SGSH)
NM_000199.4:c.356-13_360dup (SGSH)
NM_001352921.1:c.356-13_360dup (SGSH)
NM_001352922.1:c.356-13_360dup (SGSH)
NR_148201.1:n.337-13_341dup (SGSH)
XM_005257583.4:c.356-13_360dup (SGSH)
XM_017024952.1:c.356-13_360dup (SGSH)
XR_001752585.1:n.376-13_380dup (SGSH)
XR_001752586.1:n.376-13_380dup (SGSH)
XR_001752587.1:n.376-13_380dup (SGSH)
XR_001752588.1:n.376-13_380dup (SGSH)
XR_001752589.1:n.376-13_380dup (SGSH)
XR_001752590.1:n.376-13_380dup (SGSH)
XR_001752591.1:n.376-13_380dup (SGSH)
XR_001752592.1:n.376-13_380dup (SGSH)
XR_002958057.1:n.376-13_380dup (SGSH)
XR_934532.2:n.376-13_380dup (SGSH)
NM_000199.5:c.356-13_360dup (SGSH)
NM_001352921.2:c.356-13_360dup (SGSH)
NM_001352922.2:c.356-13_360dup (SGSH)
NR_148201.2:n.270-13_274dup (SGSH)
NM_001352921.3:c.356-13_360dup (SGSH)