Canonical Allele Identifier: CA413921264
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398151_101398152del , CM000685.2:g.101398151_101398152del GRCh38
NC_000023.10:g.100653139_100653140del , CM000685.1:g.100653139_100653140del GRCh37
NC_000023.9:g.100539795_100539796del NCBI36
NG_007119.1:g.14813_14814del , LRG_672:g.14813_14814del

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*446-52_*446-51del (GLA) ENSP00000501124.2:n.*446-52_*446-51del
ENST00000674127.2:c.*503-52_*503-51del (GLA) ENSP00000501044.2:n.*503-52_*503-51del
ENST00000710365.1:c.1075-52_1075-51del (GLA) ENSP00000518234.1:n.1075-52_1075-51del
ENST00000218516.4:c.1000-52_1000-51del (GLA) MANE Select ENSP00000218516.4:n.1000-52_1000-51del
ENST00000466414.2:n.1136-52_1136-51del (GLA)
ENST00000468823.2:n.2370_2371del (GLA)
ENST00000479445.2:n.1614-52_1614-51del (GLA)
ENST00000480513.6:c.*308-52_*308-51del (GLA) ENSP00000497055.1:n.*308-52_*308-51del
ENST00000486121.6:c.1045-52_1045-51del (GLA)
ENST00000649178.1:c.1123-52_1123-51del (GLA) ENSP00000498186.1:n.1123-52_1123-51del
ENST00000674127.1:c.1100-52_1100-51del (GLA) ENSP00000501044.1:n.1100-52_1100-51del
ENST00000674142.1:n.1304-52_1304-51del (GLA)
ENST00000675592.1:c.802-52_802-51del (GLA) ENSP00000502239.1:n.802-52_802-51del
ENST00000675799.1:c.*525-52_*525-51del (GLA) ENSP00000502661.1:n.*525-52_*525-51del
ENST00000675968.1:n.3871-52_3871-51del (GLA)
ENST00000676156.1:c.964-52_964-51del (GLA) ENSP00000501730.1:n.964-52_964-51del
ENST00000676372.1:c.1066-52_1066-51del (GLA) ENSP00000502805.1:n.1066-52_1066-51del
ENST00000218516.3:c.1000-52_1000-51del (GLA) ENSP00000218516.3:n.1000-52_1000-51del
ENST00000409170.3:c.300+2694_300+2695del (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2694_300+2695del
ENST00000409338.5:c.177+6329_177+6330del (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6329_177+6330del
ENST00000466414.1:n.326-52_326-51del (GLA)
ENST00000493905.6:c.*388-52_*388-51del (GLA) ENSP00000476935.1:n.*388-52_*388-51del
NM_000169.2:c.1000-52_1000-51del , LRG_672t1:c.1000-52_1000-51del (GLA) NP_000160.1:n.1000-52_1000-51del
NM_001199973.1:c.408+2694_408+2695del (RPL36A-HNRNPH2) NP_001186902.1:n.408+2694_408+2695del
NM_001199974.1:c.285+6329_285+6330del (RPL36A-HNRNPH2) NP_001186903.1:n.285+6329_285+6330del
XR_938397.1:n.1085-52_1085-51del (GLA)
XR_938397.2:n.1106-52_1106-51del (GLA)
NM_001199973.2:c.300+2694_300+2695del (RPL36A-HNRNPH2) NP_001186902.2:n.300+2694_300+2695del
NM_001199974.2:c.177+6329_177+6330del (RPL36A-HNRNPH2) NP_001186903.2:n.177+6329_177+6330del
NM_000169.3:c.1000-52_1000-51del (GLA) MANE Select NP_000160.1:n.1000-52_1000-51del
NR_164783.1:n.1079-52_1079-51del (GLA)