Canonical Allele Identifier: CA2448297477
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397922_101397975delinsTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTC , CM000685.2:g.101397922_101397975delinsTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTC GRCh38
NC_000023.10:g.100652910_100652963delinsTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTC , CM000685.1:g.100652910_100652963delinsTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTC GRCh37
NC_000023.9:g.100539566_100539619delinsTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTC NCBI36
NG_007119.1:g.14989_15042delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA , LRG_672:g.14989_15042delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000674127.2:c.*627_*680delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) ENSP00000501044.2:n.*627_*680delinsGAGTGGCCTGTAATCCTGCCTGCTTC...
ENST00000710365.1:c.1199_1252delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) ENSP00000518234.1:p.Gly400=
ENST00000218516.4:c.1124_1177delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) MANE Select ENSP00000218516.4:p.Gly375=
ENST00000466414.2:n.1260_1313delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA)
ENST00000468823.2:n.2546_2599delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA)
ENST00000479445.2:n.1738_1791delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA)
ENST00000649178.1:c.1247_1300delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) ENSP00000498186.1:p.Gly416=
ENST00000674127.1:c.1224_1277delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) ENSP00000501044.1:n.1224_1277delinsGAGTGGCCTGTAATCCTGCCTGCTTC...
ENST00000674142.1:n.1421+7_1421+60delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA)
ENST00000675592.1:c.926_979delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) ENSP00000502239.1:p.Gly309=
ENST00000675799.1:c.*649_*702delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) ENSP00000502661.1:n.*649_*702delinsGAGTGGCCTGTAATCCTGCCTGCTTC...
ENST00000675968.1:n.3995_4048delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA)
ENST00000676156.1:c.1088_1141delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) ENSP00000501730.1:p.Gly363=
ENST00000676372.1:c.1190_1243delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) ENSP00000502805.1:n.1190_1243delinsGAGTGGCCTGTAATCCTGCCTGCTTC...
ENST00000218516.3:c.1124_1177delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) ENSP00000218516.3:p.Gly375=
ENST00000409170.3:c.300+2465_300+2518delinsTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTC (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2465_300+2518delinsTCCTTTTCACAGGGAGGA...
ENST00000409338.5:c.177+6100_177+6153delinsTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTC (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6100_177+6153delinsTCCTTTTCACAGGGAGGA...
ENST00000466414.1:n.450_503delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA)
ENST00000493905.6:c.*512_*565delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) ENSP00000476935.1:n.*512_*565delinsGAGTGGCCTGTAATCCTGCCTGCTTC...
NM_000169.2:c.1124_1177delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA , LRG_672t1:c.1124_1177delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) NP_000160.1:p.Gly375=
NM_001199973.1:c.408+2465_408+2518delinsTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTC (RPL36A-HNRNPH2) NP_001186902.1:n.408+2465_408+2518delinsTCCTTTTCACAGGGAGGAGCT...
NM_001199974.1:c.285+6100_285+6153delinsTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTC (RPL36A-HNRNPH2) NP_001186903.1:n.285+6100_285+6153delinsTCCTTTTCACAGGGAGGAGCT...
XR_938397.1:n.1209_1262delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA)
XR_938397.2:n.1230_1283delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA)
NM_001199973.2:c.300+2465_300+2518delinsTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTC (RPL36A-HNRNPH2) NP_001186902.2:n.300+2465_300+2518delinsTCCTTTTCACAGGGAGGAGCT...
NM_001199974.2:c.177+6100_177+6153delinsTCCTTTTCACAGGGAGGAGCTGTGTGATGAAGCAGGCAGGATTACAGGCCACTC (RPL36A-HNRNPH2) NP_001186903.2:n.177+6100_177+6153delinsTCCTTTTCACAGGGAGGAGCT...
NM_000169.3:c.1124_1177delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA) MANE Select NP_000160.1:p.Gly375=
NR_164783.1:n.1203_1256delinsGAGTGGCCTGTAATCCTGCCTGCTTCATCACACAGCTCCTCCCTGTGAAAAGGA (GLA)