Canonical Allele Identifier: CA2448298891
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101400859_101400860delinsTG , CM000685.2:g.101400859_101400860delinsTG GRCh38
NC_000023.10:g.100655847_100655848delinsTG , CM000685.1:g.100655847_100655848delinsTG GRCh37
NC_000023.9:g.100542503_100542504delinsTG NCBI36
NG_007119.1:g.12104_12105delinsCA , LRG_672:g.12104_12105delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.663-103_663-102delinsCA (GLA) ENSP00000501124.2:n.663-103_663-102delinsCA
ENST00000674127.2:c.663-103_663-102delinsCA (GLA) ENSP00000501044.2:n.663-103_663-102delinsCA
ENST00000710365.1:c.623-103_623-102delinsCA (GLA) ENSP00000518234.1:n.623-103_623-102delinsCA
ENST00000218516.4:c.548-103_548-102delinsCA (GLA) MANE Select ENSP00000218516.4:n.548-103_548-102delinsCA
ENST00000466414.2:n.467-103_467-102delinsCA (GLA)
ENST00000468823.2:n.1380_1381delinsCA (GLA)
ENST00000479445.2:n.945-103_945-102delinsCA (GLA)
ENST00000480513.6:c.547+772_547+773delinsCA (GLA) ENSP00000497055.1:n.547+772_547+773delinsCA
ENST00000486121.6:c.593-103_593-102delinsCA (GLA)
ENST00000649178.1:c.671-103_671-102delinsCA (GLA) ENSP00000498186.1:n.671-103_671-102delinsCA
ENST00000674127.1:c.591-103_591-102delinsCA (GLA) ENSP00000501044.1:n.591-103_591-102delinsCA
ENST00000674142.1:n.635-103_635-102delinsCA (GLA)
ENST00000674634.2:c.548-103_548-102delinsCA (GLA) ENSP00000502629.2:n.548-103_548-102delinsCA
ENST00000675592.1:c.548-103_548-102delinsCA (GLA) ENSP00000502239.1:n.548-103_548-102delinsCA
ENST00000675799.1:c.547+772_547+773delinsCA (GLA) ENSP00000502661.1:n.547+772_547+773delinsCA
ENST00000675968.1:n.1380_1381delinsCA (GLA)
ENST00000676156.1:c.512-103_512-102delinsCA (GLA) ENSP00000501730.1:n.512-103_512-102delinsCA
ENST00000676372.1:c.548-103_548-102delinsCA (GLA) ENSP00000502805.1:n.548-103_548-102delinsCA
ENST00000218516.3:c.548-103_548-102delinsCA (GLA) ENSP00000218516.3:n.548-103_548-102delinsCA
ENST00000409170.3:c.300+5402_300+5403delinsTG (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+5402_300+5403delinsTG
ENST00000409338.5:c.177+9037_177+9038delinsTG (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+9037_177+9038delinsTG
ENST00000480513.5:n.477+772_477+773delinsCA (GLA)
ENST00000486121.5:n.593-103_593-102delinsCA (GLA)
ENST00000493905.6:c.548-103_548-102delinsCA (GLA) ENSP00000476935.1:n.548-103_548-102delinsCA
NM_000169.2:c.548-103_548-102delinsCA , LRG_672t1:c.548-103_548-102delinsCA (GLA) NP_000160.1:n.548-103_548-102delinsCA
NM_001199973.1:c.408+5402_408+5403delinsTG (RPL36A-HNRNPH2) NP_001186902.1:n.408+5402_408+5403delinsTG
NM_001199974.1:c.285+9037_285+9038delinsTG (RPL36A-HNRNPH2) NP_001186903.1:n.285+9037_285+9038delinsTG
XR_938397.1:n.576-103_576-102delinsCA (GLA)
XR_938397.2:n.597-103_597-102delinsCA (GLA)
NM_001199973.2:c.300+5402_300+5403delinsTG (RPL36A-HNRNPH2) NP_001186902.2:n.300+5402_300+5403delinsTG
NM_001199974.2:c.177+9037_177+9038delinsTG (RPL36A-HNRNPH2) NP_001186903.2:n.177+9037_177+9038delinsTG
NM_000169.3:c.548-103_548-102delinsCA (GLA) MANE Select NP_000160.1:n.548-103_548-102delinsCA
NR_164783.1:n.570-103_570-102delinsCA (GLA)