Canonical Allele Identifier: CA1603608868

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177404171_177404243delinsCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT , CM000667.2:g.177404171_177404243delinsCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT GRCh38
NC_000005.9:g.176831172_176831244delinsCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT , CM000667.1:g.176831172_176831244delinsCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT GRCh37
NC_000005.8:g.176763778_176763850delinsCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT NCBI36
NG_007568.1:g.10334_10406delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG , LRG_145:g.10334_10406delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000696192.1:c.*637_*684+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
ENST00000696193.1:c.*1341_*1388+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
ENST00000696194.1:c.*561_*608+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
ENST00000696195.1:n.3774_3821+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
ENST00000696200.1:n.1074_1121+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
ENST00000696201.1:c.971_1018+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
ENST00000253496.4:c.971_1018+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
ENST00000253496.3:c.971_1018+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
ENST00000502598.5:c.-45+645_-45+717delinsCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT (GRK6) ENSP00000422873.1:n.-45+645_-45+717delinsCTCCTTCCCCCCCCCACTTC...
ENST00000502854.5:n.230_277+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
ENST00000503736.1:n.343_390+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
ENST00000510358.5:n.230_302delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
NM_000505.3:c.971_1018+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG , LRG_145t1:c.971_1018+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
XM_011534461.1:c.971_1018+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
XM_011534462.1:c.635_682+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
XM_011534462.2:c.635_682+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)
XM_017009773.2:c.1416+7097_1416+7169delinsCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT (SLC34A1) XP_016865262.1:n.1416+7097_1416+7169delinsCTCCTTCCCCCCCCCACTT...
NM_000505.4:c.971_1018+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG (F12)