Canonical Allele Identifier: CA2114131414

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.100530217_100530218delinsAT , CM000675.2:g.100530217_100530218delinsAT GRCh38
NC_000013.10:g.101182471_101182472delinsAT , CM000675.1:g.101182471_101182472delinsAT GRCh37
NC_000013.9:g.99980472_99980473delinsAT NCBI36
NG_008768.1:g.446135_446136delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000683975.1:c.*1912_*1913delinsAT (GGACT) MANE Select ENSP00000508020.1:n.*1912_*1913delinsAT
ENST00000376285.6:c.*51_*52delinsAT (PCCA) MANE Select ENSP00000365462.1:n.*51_*52delinsAT
ENST00000636366.1:c.1436_1437delinsAT (PCCA)
ENST00000636475.1:c.1753_1754delinsAT (PCCA)
ENST00000637657.1:c.1898_1899delinsAT (PCCA)
ENST00000647303.1:c.*1722_*1723delinsAT (PCCA) ENSP00000495663.1:n.*1722_*1723delinsAT
ENST00000376250.6:c.*1912_*1913delinsAT (GGACT) ENSP00000365426.1:n.*1912_*1913delinsAT
ENST00000376279.7:c.*51_*52delinsAT (PCCA) ENSP00000365456.3:n.*51_*52delinsAT
ENST00000376285.5:c.*51_*52delinsAT (PCCA) ENSP00000365462.1:n.*51_*52delinsAT
ENST00000376286.8:c.*51_*52delinsAT (PCCA) ENSP00000365463.4:n.*51_*52delinsAT
ENST00000428969.1:c.387_388delinsAT (PCCA) ENSP00000399413.1:n.387_388delinsAT
ENST00000455100.2:c.*1912_*1913delinsAT (GGACT) ENSP00000410449.1:n.*1912_*1913delinsAT
ENST00000458283.5:c.454_455delinsAT (PCCA)
NM_000282.3:c.*51_*52delinsAT (PCCA) NP_000273.2:n.*51_*52delinsAT
NM_001127692.2:c.*51_*52delinsAT (PCCA) NP_001121164.1:n.*51_*52delinsAT
NM_001178004.1:c.*51_*52delinsAT (PCCA) NP_001171475.1:n.*51_*52delinsAT
NM_001195087.1:c.*1912_*1913delinsAT (GGACT) NP_001182016.1:n.*1912_*1913delinsAT
NM_033110.2:c.*1912_*1913delinsAT (GGACT) NP_149101.1:n.*1912_*1913delinsAT
XR_931615.1:n.2095_2096delinsAT (PCCA)
NM_001352605.1:c.*51_*52delinsAT (PCCA) NP_001339534.1:n.*51_*52delinsAT
NM_001352606.1:c.*51_*52delinsAT (PCCA) NP_001339535.1:n.*51_*52delinsAT
NM_001352607.1:c.*51_*52delinsAT (PCCA) NP_001339536.1:n.*51_*52delinsAT
NM_001352608.1:c.*51_*52delinsAT (PCCA) NP_001339537.1:n.*51_*52delinsAT
NM_001352610.1:c.*51_*52delinsAT (PCCA) NP_001339539.1:n.*51_*52delinsAT
NM_001352611.1:c.*51_*52delinsAT (PCCA) NP_001339540.1:n.*51_*52delinsAT
NM_001352612.1:c.*51_*52delinsAT (PCCA) NP_001339541.1:n.*51_*52delinsAT
NR_148027.1:n.2287_2288delinsAT (PCCA)
NR_148028.1:n.2325_2326delinsAT (PCCA)
NR_148029.1:n.2247_2248delinsAT (PCCA)
NR_148030.1:n.2428_2429delinsAT (PCCA)
NR_148031.1:n.2241_2242delinsAT (PCCA)
XM_005254083.2:c.*1912_*1913delinsAT (GGACT) XP_005254140.1:n.*1912_*1913delinsAT
XM_011521129.3:c.*1912_*1913delinsAT (GGACT) XP_011519431.1:n.*1912_*1913delinsAT
XM_017020609.1:c.*51_*52delinsAT (PCCA) XP_016876098.1:n.*51_*52delinsAT
XM_017020613.1:c.*166_*167delinsAT (PCCA) XP_016876102.1:n.*166_*167delinsAT
XR_001749567.1:n.2418_2419delinsAT (PCCA)
XR_001749568.1:n.2505_2506delinsAT (PCCA)
XR_001749569.1:n.2364_2365delinsAT (PCCA)
XR_001749576.1:n.1975_1976delinsAT (PCCA)
XR_001749577.1:n.1872_1873delinsAT (PCCA)
NM_000282.4:c.*51_*52delinsAT (PCCA) MANE Select NP_000273.2:n.*51_*52delinsAT
NM_001352605.2:c.*51_*52delinsAT (PCCA) NP_001339534.1:n.*51_*52delinsAT
NM_001352606.2:c.*51_*52delinsAT (PCCA) NP_001339535.1:n.*51_*52delinsAT
NM_001352607.2:c.*51_*52delinsAT (PCCA) NP_001339536.1:n.*51_*52delinsAT
NM_001352608.2:c.*51_*52delinsAT (PCCA) NP_001339537.1:n.*51_*52delinsAT
NM_001352610.2:c.*51_*52delinsAT (PCCA) NP_001339539.1:n.*51_*52delinsAT
NM_001352611.2:c.*51_*52delinsAT (PCCA) NP_001339540.1:n.*51_*52delinsAT
NM_001352612.2:c.*51_*52delinsAT (PCCA) NP_001339541.1:n.*51_*52delinsAT
NR_148027.2:n.2209_2210delinsAT (PCCA)
NR_148028.2:n.2247_2248delinsAT (PCCA)
NR_148029.2:n.2169_2170delinsAT (PCCA)
NR_148030.2:n.2350_2351delinsAT (PCCA)
NR_148031.2:n.2163_2164delinsAT (PCCA)
NM_001127692.3:c.*51_*52delinsAT (PCCA) NP_001121164.1:n.*51_*52delinsAT
NM_001178004.2:c.*51_*52delinsAT (PCCA) NP_001171475.1:n.*51_*52delinsAT
NM_001195087.2:c.*1912_*1913delinsAT (GGACT) MANE Select NP_001182016.1:n.*1912_*1913delinsAT
NM_033110.3:c.*1912_*1913delinsAT (GGACT) NP_149101.1:n.*1912_*1913delinsAT