Canonical Allele Identifier: CA352855

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312453
• MyVariant Identifiers: chrX:g.100653408_100653409insA (hg19) ; chrX:g.101398420_101398421insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398420_101398421insA , CM000685.2:g.101398420_101398421insA	GRCh38
NC_000023.10:g.100653408_100653409insA , CM000685.1:g.100653408_100653409insA	GRCh37
NC_000023.9:g.100540064_100540065insA	NCBI36
NG_007119.1:g.14543_14544insT , LRG_672:g.14543_14544insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*394_*395insT (GLA)	ENSP00000501124.2:n.*394_*395insT
ENST00000674127.2:c.*451_*452insT (GLA)	ENSP00000501044.2:n.*451_*452insT
ENST00000710365.1:c.1023_1024insT (GLA)	ENSP00000518234.1:p.Ile342TyrfsTer16
ENST00000218516.4:c.948_949insT (GLA) MANE Select	ENSP00000218516.4:p.Ile317TyrfsTer16
ENST00000466414.2:n.1084_1085insT (GLA)
ENST00000468823.2:n.2100_2101insT (GLA)
ENST00000479445.2:n.1562_1563insT (GLA)
ENST00000480513.6:c.*256_*257insT (GLA)	ENSP00000497055.1:n.*256_*257insT
ENST00000486121.6:c.993_994insT (GLA)
ENST00000649178.1:c.1071_1072insT (GLA)	ENSP00000498186.1:p.Ile358TyrfsTer16
ENST00000674127.1:c.1048_1049insT (GLA)	ENSP00000501044.1:n.1048_1049insT
ENST00000674142.1:n.1252_1253insT (GLA)
ENST00000674634.2:c.948_949insT (GLA)	ENSP00000502629.2:p.Ile317TyrfsTer16
ENST00000675592.1:c.802-322_802-321insT (GLA)	ENSP00000502239.1:n.802-322_802-321insT
ENST00000675799.1:c.*473_*474insT (GLA)	ENSP00000502661.1:n.*473_*474insT
ENST00000675968.1:n.3819_3820insT (GLA)
ENST00000676156.1:c.912_913insT (GLA)	ENSP00000501730.1:p.Ile305TyrfsTer16
ENST00000676372.1:c.1014_1015insT (GLA)	ENSP00000502805.1:n.1014_1015insT
ENST00000218516.3:c.948_949insT (GLA)	ENSP00000218516.3:p.Ile317TyrfsTer16
ENST00000409170.3:c.300+2963_300+2964insA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2963_300+2964insA
ENST00000409338.5:c.177+6598_177+6599insA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6598_177+6599insA
ENST00000466414.1:n.274_275insT (GLA)
ENST00000493905.6:c.*336_*337insT (GLA)	ENSP00000476935.1:n.*336_*337insT
NM_000169.2:c.948_949insT , LRG_672t1:c.948_949insT (GLA)	NP_000160.1:p.Ile317TyrfsTer16
NM_001199973.1:c.408+2963_408+2964insA (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2963_408+2964insA
NM_001199974.1:c.285+6598_285+6599insA (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6598_285+6599insA
XR_938397.1:n.1033_1034insT (GLA)
XR_938397.2:n.1054_1055insT (GLA)
NM_001199973.2:c.300+2963_300+2964insA (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2963_300+2964insA
NM_001199974.2:c.177+6598_177+6599insA (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6598_177+6599insA
NM_000169.3:c.948_949insT (GLA) MANE Select	NP_000160.1:p.Ile317TyrfsTer16
NR_164783.1:n.1027_1028insT (GLA)