Canonical Allele Identifier: CA2448297880
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398148_101398150delinsCCT , CM000685.2:g.101398148_101398150delinsCCT GRCh38
NC_000023.10:g.100653136_100653138delinsCCT , CM000685.1:g.100653136_100653138delinsCCT GRCh37
NC_000023.9:g.100539792_100539794delinsCCT NCBI36
NG_007119.1:g.14814_14816delinsAGG , LRG_672:g.14814_14816delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*446-51_*446-49delinsAGG (GLA) ENSP00000501124.2:n.*446-51_*446-49delinsAGG
ENST00000674127.2:c.*503-51_*503-49delinsAGG (GLA) ENSP00000501044.2:n.*503-51_*503-49delinsAGG
ENST00000710365.1:c.1075-51_1075-49delinsAGG (GLA) ENSP00000518234.1:n.1075-51_1075-49delinsAGG
ENST00000218516.4:c.1000-51_1000-49delinsAGG (GLA) MANE Select ENSP00000218516.4:n.1000-51_1000-49delinsAGG
ENST00000466414.2:n.1136-51_1136-49delinsAGG (GLA)
ENST00000468823.2:n.2371_2373delinsAGG (GLA)
ENST00000479445.2:n.1614-51_1614-49delinsAGG (GLA)
ENST00000480513.6:c.*308-51_*308-49delinsAGG (GLA) ENSP00000497055.1:n.*308-51_*308-49delinsAGG
ENST00000486121.6:c.1045-51_1045-49delinsAGG (GLA)
ENST00000649178.1:c.1123-51_1123-49delinsAGG (GLA) ENSP00000498186.1:n.1123-51_1123-49delinsAGG
ENST00000674127.1:c.1100-51_1100-49delinsAGG (GLA) ENSP00000501044.1:n.1100-51_1100-49delinsAGG
ENST00000674142.1:n.1304-51_1304-49delinsAGG (GLA)
ENST00000675592.1:c.802-51_802-49delinsAGG (GLA) ENSP00000502239.1:n.802-51_802-49delinsAGG
ENST00000675799.1:c.*525-51_*525-49delinsAGG (GLA) ENSP00000502661.1:n.*525-51_*525-49delinsAGG
ENST00000675968.1:n.3871-51_3871-49delinsAGG (GLA)
ENST00000676156.1:c.964-51_964-49delinsAGG (GLA) ENSP00000501730.1:n.964-51_964-49delinsAGG
ENST00000676372.1:c.1066-51_1066-49delinsAGG (GLA) ENSP00000502805.1:n.1066-51_1066-49delinsAGG
ENST00000218516.3:c.1000-51_1000-49delinsAGG (GLA) ENSP00000218516.3:n.1000-51_1000-49delinsAGG
ENST00000409170.3:c.300+2691_300+2693delinsCCT (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2691_300+2693delinsCCT
ENST00000409338.5:c.177+6326_177+6328delinsCCT (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6326_177+6328delinsCCT
ENST00000466414.1:n.326-51_326-49delinsAGG (GLA)
ENST00000493905.6:c.*388-51_*388-49delinsAGG (GLA) ENSP00000476935.1:n.*388-51_*388-49delinsAGG
NM_000169.2:c.1000-51_1000-49delinsAGG , LRG_672t1:c.1000-51_1000-49delinsAGG (GLA) NP_000160.1:n.1000-51_1000-49delinsAGG
NM_001199973.1:c.408+2691_408+2693delinsCCT (RPL36A-HNRNPH2) NP_001186902.1:n.408+2691_408+2693delinsCCT
NM_001199974.1:c.285+6326_285+6328delinsCCT (RPL36A-HNRNPH2) NP_001186903.1:n.285+6326_285+6328delinsCCT
XR_938397.1:n.1085-51_1085-49delinsAGG (GLA)
XR_938397.2:n.1106-51_1106-49delinsAGG (GLA)
NM_001199973.2:c.300+2691_300+2693delinsCCT (RPL36A-HNRNPH2) NP_001186902.2:n.300+2691_300+2693delinsCCT
NM_001199974.2:c.177+6326_177+6328delinsCCT (RPL36A-HNRNPH2) NP_001186903.2:n.177+6326_177+6328delinsCCT
NM_000169.3:c.1000-51_1000-49delinsAGG (GLA) MANE Select NP_000160.1:n.1000-51_1000-49delinsAGG
NR_164783.1:n.1079-51_1079-49delinsAGG (GLA)