Canonical Allele Identifier: CA869302848
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1484684062

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398207_101398217del , CM000685.2:g.101398207_101398217del GRCh38
NC_000023.10:g.100653195_100653205del , CM000685.1:g.100653195_100653205del GRCh37
NC_000023.9:g.100539851_100539861del NCBI36
NG_007119.1:g.14748_14758del , LRG_672:g.14748_14758del

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*446-117_*446-107del (GLA) ENSP00000501124.2:n.*446-117_*446-107del
ENST00000674127.2:c.*503-117_*503-107del (GLA) ENSP00000501044.2:n.*503-117_*503-107del
ENST00000710365.1:c.1075-117_1075-107del (GLA) ENSP00000518234.1:n.1075-117_1075-107del
ENST00000218516.4:c.1000-117_1000-107del (GLA) MANE Select ENSP00000218516.4:n.1000-117_1000-107del
ENST00000466414.2:n.1136-117_1136-107del (GLA)
ENST00000468823.2:n.2305_2315del (GLA)
ENST00000479445.2:n.1614-117_1614-107del (GLA)
ENST00000480513.6:c.*308-117_*308-107del (GLA) ENSP00000497055.1:n.*308-117_*308-107del
ENST00000486121.6:c.1045-117_1045-107del (GLA)
ENST00000649178.1:c.1123-117_1123-107del (GLA) ENSP00000498186.1:n.1123-117_1123-107del
ENST00000674127.1:c.1100-117_1100-107del (GLA) ENSP00000501044.1:n.1100-117_1100-107del
ENST00000674142.1:n.1304-117_1304-107del (GLA)
ENST00000675592.1:c.802-117_802-107del (GLA) ENSP00000502239.1:n.802-117_802-107del
ENST00000675799.1:c.*525-117_*525-107del (GLA) ENSP00000502661.1:n.*525-117_*525-107del
ENST00000675968.1:n.3871-117_3871-107del (GLA)
ENST00000676156.1:c.964-117_964-107del (GLA) ENSP00000501730.1:n.964-117_964-107del
ENST00000676372.1:c.1066-117_1066-107del (GLA) ENSP00000502805.1:n.1066-117_1066-107del
ENST00000218516.3:c.1000-117_1000-107del (GLA) ENSP00000218516.3:n.1000-117_1000-107del
ENST00000409170.3:c.300+2750_300+2760del (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2750_300+2760del
ENST00000409338.5:c.177+6385_177+6395del (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6385_177+6395del
ENST00000466414.1:n.326-117_326-107del (GLA)
ENST00000493905.6:c.*388-117_*388-107del (GLA) ENSP00000476935.1:n.*388-117_*388-107del
NM_000169.2:c.1000-117_1000-107del , LRG_672t1:c.1000-117_1000-107del (GLA) NP_000160.1:n.1000-117_1000-107del
NM_001199973.1:c.408+2750_408+2760del (RPL36A-HNRNPH2) NP_001186902.1:n.408+2750_408+2760del
NM_001199974.1:c.285+6385_285+6395del (RPL36A-HNRNPH2) NP_001186903.1:n.285+6385_285+6395del
XR_938397.1:n.1085-117_1085-107del (GLA)
XR_938397.2:n.1106-117_1106-107del (GLA)
NM_001199973.2:c.300+2750_300+2760del (RPL36A-HNRNPH2) NP_001186902.2:n.300+2750_300+2760del
NM_001199974.2:c.177+6385_177+6395del (RPL36A-HNRNPH2) NP_001186903.2:n.177+6385_177+6395del
NM_000169.3:c.1000-117_1000-107del (GLA) MANE Select NP_000160.1:n.1000-117_1000-107del
NR_164783.1:n.1079-117_1079-107del (GLA)