Canonical Allele Identifier: CA2448298165
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398810_101398812delinsGGT , CM000685.2:g.101398810_101398812delinsGGT GRCh38
NC_000023.10:g.100653798_100653800delinsGGT , CM000685.1:g.100653798_100653800delinsGGT GRCh37
NC_000023.9:g.100540454_100540456delinsGGT NCBI36
NG_007119.1:g.14152_14154delinsACC , LRG_672:g.14152_14154delinsACC

Transcript Alleles

HGVS Amino-acid change
ENST00000486121.7:c.*220_*222delinsACC (GLA) ENSP00000501124.2:n.*220_*222delinsACC
ENST00000674127.2:c.*277_*279delinsACC (GLA) ENSP00000501044.2:n.*277_*279delinsACC
ENST00000710365.1:c.849_851delinsACC (GLA) ENSP00000518234.1:p.Gly283=
ENST00000218516.4:c.774_776delinsACC (GLA) MANE Select ENSP00000218516.4:p.Gly258=
ENST00000466414.2:n.693_695delinsACC (GLA)
ENST00000468823.2:n.1709_1711delinsACC (GLA)
ENST00000479445.2:n.1171_1173delinsACC (GLA)
ENST00000480513.6:c.*82_*84delinsACC (GLA) ENSP00000497055.1:n.*82_*84delinsACC
ENST00000486121.6:c.819_821delinsACC (GLA)
ENST00000649178.1:c.897_899delinsACC (GLA) ENSP00000498186.1:p.Gly299=
ENST00000674127.1:c.874_876delinsACC (GLA) ENSP00000501044.1:n.874_876delinsACC
ENST00000674142.1:n.861_863delinsACC (GLA)
ENST00000674634.2:c.774_776delinsACC (GLA) ENSP00000502629.2:p.Gly258=
ENST00000675592.1:c.774_776delinsACC (GLA) ENSP00000502239.1:p.Gly258=
ENST00000675799.1:c.*82_*84delinsACC (GLA) ENSP00000502661.1:n.*82_*84delinsACC
ENST00000675968.1:n.3428_3430delinsACC (GLA)
ENST00000676156.1:c.738_740delinsACC (GLA) ENSP00000501730.1:p.Gly246=
ENST00000676372.1:c.774_776delinsACC (GLA) ENSP00000502805.1:p.Gly258=
ENST00000218516.3:c.774_776delinsACC (GLA) ENSP00000218516.3:p.Gly258=
ENST00000409170.3:c.300+3353_300+3355delinsGGT (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+3353_300+3355deli...
ENST00000409338.5:c.177+6988_177+6990delinsGGT (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6988_177+6990deli...
ENST00000468823.1:n.323_325delinsACC (GLA)
ENST00000493905.6:c.*162_*164delinsACC (GLA) ENSP00000476935.1:n.*162_*164delinsACC
NM_000169.2:c.774_776delinsACC , LRG_672t1:c.774_776delinsACC (GLA) NP_000160.1:p.Gly258=
NM_001199973.1:c.408+3353_408+3355delinsGGT (RPL36A-HNRNPH2) NP_001186902.1:n.408+3353_408+3355delinsG...
NM_001199974.1:c.285+6988_285+6990delinsGGT (RPL36A-HNRNPH2) NP_001186903.1:n.285+6988_285+6990delinsG...
XR_938397.1:n.859_861delinsACC (GLA)
XR_938397.2:n.880_882delinsACC (GLA)
NM_001199973.2:c.300+3353_300+3355delinsGGT (RPL36A-HNRNPH2) NP_001186902.2:n.300+3353_300+3355delinsG...
NM_001199974.2:c.177+6988_177+6990delinsGGT (RPL36A-HNRNPH2) NP_001186903.2:n.177+6988_177+6990delinsG...
NM_000169.3:c.774_776delinsACC (GLA) MANE Select NP_000160.1:p.Gly258=
NR_164783.1:n.853_855delinsACC (GLA)