Canonical Allele Identifier: CA2499226270
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1177260
ClinVar RCV Id: RCV001532917
dbSNP Id: rs2147471995

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398425_101398457dup , CM000685.2:g.101398425_101398457dup GRCh38
NC_000023.10:g.100653413_100653445dup , CM000685.1:g.100653413_100653445dup GRCh37
NC_000023.9:g.100540069_100540101dup NCBI36
NG_007119.1:g.14508_14540dup , LRG_672:g.14508_14540dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.*359_*391dup (GLA) ENSP00000501124.2:n.*359_*391dup
ENST00000674127.2:c.*416_*448dup (GLA) ENSP00000501044.2:n.*416_*448dup
ENST00000710365.1:c.988_1020dup (GLA) ENSP00000518234.1:p.Asp340_Val341insProGlnAlaLysAlaLeuLeuGlnA...
ENST00000218516.4:c.913_945dup (GLA) MANE Select ENSP00000218516.4:p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnA...
ENST00000466414.2:n.1049_1081dup (GLA)
ENST00000468823.2:n.2065_2097dup (GLA)
ENST00000479445.2:n.1527_1559dup (GLA)
ENST00000480513.6:c.*221_*253dup (GLA) ENSP00000497055.1:n.*221_*253dup
ENST00000486121.6:c.958_990dup (GLA)
ENST00000649178.1:c.1036_1068dup (GLA) ENSP00000498186.1:p.Asp356_Val357insProGlnAlaLysAlaLeuLeuGlnA...
ENST00000674127.1:c.1013_1045dup (GLA) ENSP00000501044.1:n.1013_1045dup
ENST00000674142.1:n.1217_1249dup (GLA)
ENST00000674634.2:c.913_945dup (GLA) ENSP00000502629.2:p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnA...
ENST00000675592.1:c.801+329_802-325dup (GLA) ENSP00000502239.1:n.801+329_802-325dup
ENST00000675799.1:c.*438_*470dup (GLA) ENSP00000502661.1:n.*438_*470dup
ENST00000675968.1:n.3784_3816dup (GLA)
ENST00000676156.1:c.877_909dup (GLA) ENSP00000501730.1:p.Asp303_Val304insProGlnAlaLysAlaLeuLeuGlnA...
ENST00000676372.1:c.979_1011dup (GLA) ENSP00000502805.1:n.979_1011dup
ENST00000218516.3:c.913_945dup (GLA) ENSP00000218516.3:p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnA...
ENST00000409170.3:c.300+2968_300+3000dup (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2968_300+3000dup
ENST00000409338.5:c.177+6603_177+6635dup (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6603_177+6635dup
ENST00000466414.1:n.239_271dup (GLA)
ENST00000493905.6:c.*301_*333dup (GLA) ENSP00000476935.1:n.*301_*333dup
NM_000169.2:c.913_945dup , LRG_672t1:c.913_945dup (GLA) NP_000160.1:p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnAspLysA...
NM_001199973.1:c.408+2968_408+3000dup (RPL36A-HNRNPH2) NP_001186902.1:n.408+2968_408+3000dup
NM_001199974.1:c.285+6603_285+6635dup (RPL36A-HNRNPH2) NP_001186903.1:n.285+6603_285+6635dup
XR_938397.1:n.998_1030dup (GLA)
XR_938397.2:n.1019_1051dup (GLA)
NM_001199973.2:c.300+2968_300+3000dup (RPL36A-HNRNPH2) NP_001186902.2:n.300+2968_300+3000dup
NM_001199974.2:c.177+6603_177+6635dup (RPL36A-HNRNPH2) NP_001186903.2:n.177+6603_177+6635dup
NM_000169.3:c.913_945dup (GLA) MANE Select NP_000160.1:p.Asp315_Val316insProGlnAlaLysAlaLeuLeuGlnAspLysA...
NR_164783.1:n.992_1024dup (GLA)