Canonical Allele Identifier: CA2695234861

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397921_101397922del , CM000685.2:g.101397921_101397922del	GRCh38
NC_000023.10:g.100652909_100652910del , CM000685.1:g.100652909_100652910del	GRCh37
NC_000023.9:g.100539565_100539566del	NCBI36
NG_007119.1:g.15042_15043del , LRG_672:g.15042_15043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*680_*681del (GLA)	ENSP00000501044.2:n.*680_*681del
ENST00000710365.1:c.1252_1253del (GLA)	ENSP00000518234.1:p.Lys418AlafsTer5
ENST00000218516.4:c.1177_1178del (GLA) MANE Select	ENSP00000218516.4:p.Lys393AlafsTer5
ENST00000466414.2:n.1313_1314del (GLA)
ENST00000468823.2:n.2599_2600del (GLA)
ENST00000479445.2:n.1791_1792del (GLA)
ENST00000649178.1:c.1300_1301del (GLA)	ENSP00000498186.1:p.Lys434AlafsTer5
ENST00000674127.1:c.1277_1278del (GLA)	ENSP00000501044.1:n.1277_1278del
ENST00000674142.1:n.1421+60_1421+61del (GLA)
ENST00000675592.1:c.979_980del (GLA)	ENSP00000502239.1:p.Lys327AlafsTer5
ENST00000675799.1:c.*702_*703del (GLA)	ENSP00000502661.1:n.*702_*703del
ENST00000675968.1:n.4048_4049del (GLA)
ENST00000676156.1:c.1141_1142del (GLA)	ENSP00000501730.1:p.Lys381AlafsTer5
ENST00000676372.1:c.1243_1244del (GLA)	ENSP00000502805.1:n.1243_1244del
ENST00000218516.3:c.1177_1178del (GLA)	ENSP00000218516.3:p.Lys393AlafsTer5
ENST00000409170.3:c.300+2464_300+2465del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2464_300+2465del
ENST00000409338.5:c.177+6099_177+6100del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6099_177+6100del
ENST00000466414.1:n.503_504del (GLA)
ENST00000493905.6:c.*565_*566del (GLA)	ENSP00000476935.1:n.*565_*566del
NM_000169.2:c.1177_1178del , LRG_672t1:c.1177_1178del (GLA)	NP_000160.1:p.Lys393AlafsTer5
NM_001199973.1:c.408+2464_408+2465del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2464_408+2465del
NM_001199974.1:c.285+6099_285+6100del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6099_285+6100del
XR_938397.1:n.1262_1263del (GLA)
XR_938397.2:n.1283_1284del (GLA)
NM_001199973.2:c.300+2464_300+2465del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2464_300+2465del
NM_001199974.2:c.177+6099_177+6100del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6099_177+6100del
NM_000169.3:c.1177_1178del (GLA) MANE Select	NP_000160.1:p.Lys393AlafsTer5
NR_164783.1:n.1256_1257del (GLA)