Canonical Allele Identifier: CA2694298159
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

gnomAD v4: X-101397755-GTGAA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397758_101397761del , CM000685.2:g.101397758_101397761del GRCh38
NC_000023.10:g.100652746_100652749del , CM000685.1:g.100652746_100652749del GRCh37
NC_000023.9:g.100539402_100539405del NCBI36
NG_007119.1:g.15205_15208del , LRG_672:g.15205_15208del
NG_012523.1:g.11799_11802del

Transcript Alleles

HGVS Amino-acid change
ENST00000710365.1:c.*50_*53del (GLA) ENSP00000518234.1:n.*50_*53del
ENST00000468823.2:n.2762_2765del (GLA)
ENST00000674142.1:n.1421+223_1421+226del (GLA)
ENST00000409170.3:c.300+2301_300+2304del (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2301_300+2304del
ENST00000409338.5:c.177+5936_177+5939del (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+5936_177+5939del
NM_001199973.1:c.408+2301_408+2304del (RPL36A-HNRNPH2) NP_001186902.1:n.408+2301_408+2304del
NM_001199974.1:c.285+5936_285+5939del (RPL36A-HNRNPH2) NP_001186903.1:n.285+5936_285+5939del
NM_001199973.2:c.300+2301_300+2304del (RPL36A-HNRNPH2) NP_001186902.2:n.300+2301_300+2304del
NM_001199974.2:c.177+5936_177+5939del (RPL36A-HNRNPH2) NP_001186903.2:n.177+5936_177+5939del
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