Canonical Allele Identifier: CA2448298164
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398808_101398809delinsCT , CM000685.2:g.101398808_101398809delinsCT GRCh38
NC_000023.10:g.100653796_100653797delinsCT , CM000685.1:g.100653796_100653797delinsCT GRCh37
NC_000023.9:g.100540452_100540453delinsCT NCBI36
NG_007119.1:g.14155_14156delinsAG , LRG_672:g.14155_14156delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000486121.7:c.*223_*224delinsAG (GLA) ENSP00000501124.2:n.*223_*224delinsAG
ENST00000674127.2:c.*280_*281delinsAG (GLA) ENSP00000501044.2:n.*280_*281delinsAG
ENST00000710365.1:c.852_853delinsAG (GLA) ENSP00000518234.1:p.Pro284=
ENST00000218516.4:c.777_778delinsAG (GLA) MANE Select ENSP00000218516.4:p.Pro259=
ENST00000466414.2:n.696_697delinsAG (GLA)
ENST00000468823.2:n.1712_1713delinsAG (GLA)
ENST00000479445.2:n.1174_1175delinsAG (GLA)
ENST00000480513.6:c.*85_*86delinsAG (GLA) ENSP00000497055.1:n.*85_*86delinsAG
ENST00000486121.6:c.822_823delinsAG (GLA)
ENST00000649178.1:c.900_901delinsAG (GLA) ENSP00000498186.1:p.Pro300=
ENST00000674127.1:c.877_878delinsAG (GLA) ENSP00000501044.1:n.877_878delinsAG
ENST00000674142.1:n.864_865delinsAG (GLA)
ENST00000674634.2:c.777_778delinsAG (GLA) ENSP00000502629.2:p.Pro259=
ENST00000675592.1:c.777_778delinsAG (GLA) ENSP00000502239.1:p.Pro259=
ENST00000675799.1:c.*85_*86delinsAG (GLA) ENSP00000502661.1:n.*85_*86delinsAG
ENST00000675968.1:n.3431_3432delinsAG (GLA)
ENST00000676156.1:c.741_742delinsAG (GLA) ENSP00000501730.1:p.Pro247=
ENST00000676372.1:c.777_778delinsAG (GLA) ENSP00000502805.1:p.Pro259=
ENST00000218516.3:c.777_778delinsAG (GLA) ENSP00000218516.3:p.Pro259=
ENST00000409170.3:c.300+3351_300+3352delinsCT (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3351_300+3352deli...
ENST00000409338.5:c.177+6986_177+6987delinsCT (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6986_177+6987deli...
ENST00000468823.1:n.326_327delinsAG (GLA)
ENST00000493905.6:c.*165_*166delinsAG (GLA) ENSP00000476935.1:n.*165_*166delinsAG
NM_000169.2:c.777_778delinsAG , LRG_672t1:c.777_778delinsAG (GLA) NP_000160.1:p.Pro259=
NM_001199973.1:c.408+3351_408+3352delinsCT (RPL36A-HNRNPH2) NP_001186902.1:n.408+3351_408+3352delinsC...
NM_001199974.1:c.285+6986_285+6987delinsCT (RPL36A-HNRNPH2) NP_001186903.1:n.285+6986_285+6987delinsC...
XR_938397.1:n.862_863delinsAG (GLA)
XR_938397.2:n.883_884delinsAG (GLA)
NM_001199973.2:c.300+3351_300+3352delinsCT (RPL36A-HNRNPH2) NP_001186902.2:n.300+3351_300+3352delinsC...
NM_001199974.2:c.177+6986_177+6987delinsCT (RPL36A-HNRNPH2) NP_001186903.2:n.177+6986_177+6987delinsC...
NM_000169.3:c.777_778delinsAG (GLA) MANE Select NP_000160.1:p.Pro259=
NR_164783.1:n.856_857delinsAG (GLA)