Canonical Allele Identifier: CA352919
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

dbSNP Id: rs869312455

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398405_101398406delinsTG , CM000685.2:g.101398405_101398406delinsTG GRCh38
NC_000023.10:g.100653393_100653394delinsTG , CM000685.1:g.100653393_100653394delinsTG GRCh37
NC_000023.9:g.100540049_100540050delinsTG NCBI36
NG_007119.1:g.14558_14559delinsCA , LRG_672:g.14558_14559delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000486121.7:c.*409_*410delinsCA (GLA) ENSP00000501124.2:n.*409_*410delinsCA
ENST00000674127.2:c.*466_*467delinsCA (GLA) ENSP00000501044.2:n.*466_*467delinsCA
ENST00000710365.1:c.1038_1039delinsCA (GLA) ENSP00000518234.1:p.Gln346_Asp347delinsHisAsn
ENST00000218516.4:c.963_964delinsCA (GLA) MANE Select ENSP00000218516.4:p.Gln321_Asp322delinsHisAsn
ENST00000466414.2:n.1099_1100delinsCA (GLA)
ENST00000468823.2:n.2115_2116delinsCA (GLA)
ENST00000479445.2:n.1577_1578delinsCA (GLA)
ENST00000480513.6:c.*271_*272delinsCA (GLA) ENSP00000497055.1:n.*271_*272delinsCA
ENST00000486121.6:c.1008_1009delinsCA (GLA)
ENST00000649178.1:c.1086_1087delinsCA (GLA) ENSP00000498186.1:p.Gln362_Asp363delinsHisAsn
ENST00000674127.1:c.1063_1064delinsCA (GLA) ENSP00000501044.1:n.1063_1064delinsCA
ENST00000674142.1:n.1267_1268delinsCA (GLA)
ENST00000674634.2:c.963_964delinsCA (GLA) ENSP00000502629.2:p.Gln321_Asp322delinsHisAsn
ENST00000675592.1:c.802-307_802-306delinsCA (GLA) ENSP00000502239.1:n.802-307_802-306delinsCA
ENST00000675799.1:c.*488_*489delinsCA (GLA) ENSP00000502661.1:n.*488_*489delinsCA
ENST00000675968.1:n.3834_3835delinsCA (GLA)
ENST00000676156.1:c.927_928delinsCA (GLA) ENSP00000501730.1:p.Gln309_Asp310delinsHisAsn
ENST00000676372.1:c.1029_1030delinsCA (GLA) ENSP00000502805.1:n.1029_1030delinsCA
ENST00000218516.3:c.963_964delinsCA (GLA) ENSP00000218516.3:p.Gln321_Asp322delinsHisAsn
ENST00000409170.3:c.300+2948_300+2949delinsTG (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2948_300+2949delinsTG
ENST00000409338.5:c.177+6583_177+6584delinsTG (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6583_177+6584delinsTG
ENST00000466414.1:n.289_290delinsCA (GLA)
ENST00000493905.6:c.*351_*352delinsCA (GLA) ENSP00000476935.1:n.*351_*352delinsCA
NM_000169.2:c.963_964delinsCA , LRG_672t1:c.963_964delinsCA (GLA) NP_000160.1:p.Gln321_Asp322delinsHisAsn
NM_001199973.1:c.408+2948_408+2949delinsTG (RPL36A-HNRNPH2) NP_001186902.1:n.408+2948_408+2949delinsTG
NM_001199974.1:c.285+6583_285+6584delinsTG (RPL36A-HNRNPH2) NP_001186903.1:n.285+6583_285+6584delinsTG
XR_938397.1:n.1048_1049delinsCA (GLA)
XR_938397.2:n.1069_1070delinsCA (GLA)
NM_001199973.2:c.300+2948_300+2949delinsTG (RPL36A-HNRNPH2) NP_001186902.2:n.300+2948_300+2949delinsTG
NM_001199974.2:c.177+6583_177+6584delinsTG (RPL36A-HNRNPH2) NP_001186903.2:n.177+6583_177+6584delinsTG
NM_000169.3:c.963_964delinsCA (GLA) MANE Select NP_000160.1:p.Gln321_Asp322delinsHisAsn
NR_164783.1:n.1042_1043delinsCA (GLA)