Canonical Allele Identifier: CA029333

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2998568
• ClinVar RCV Id: RCV003859215
• dbSNP Id: rs782298988
• ExAC: X:100653103 AGT / A
• gnomAD v2: X-100653103-AGT-A
• gnomAD v4: X-101398115-AGT-A
• MyVariant Identifiers: chrX:g.100653104_100653105del (hg19) ; chrX:g.101398116_101398117del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398119_101398120del , CM000685.2:g.101398119_101398120del	GRCh38
NC_000023.10:g.100653107_100653108del , CM000685.1:g.100653107_100653108del	GRCh37
NC_000023.9:g.100539763_100539764del	NCBI36
NG_007119.1:g.14847_14848del , LRG_672:g.14847_14848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-18_*446-17del (GLA)	ENSP00000501124.2:n.*446-18_*446-17del
ENST00000674127.2:c.*503-18_*503-17del (GLA)	ENSP00000501044.2:n.*503-18_*503-17del
ENST00000710365.1:c.1075-18_1075-17del (GLA)	ENSP00000518234.1:n.1075-18_1075-17del
ENST00000218516.4:c.1000-18_1000-17del (GLA) MANE Select	ENSP00000218516.4:n.1000-18_1000-17del
ENST00000466414.2:n.1136-18_1136-17del (GLA)
ENST00000468823.2:n.2404_2405del (GLA)
ENST00000479445.2:n.1614-18_1614-17del (GLA)
ENST00000480513.6:c.*308-18_*308-17del (GLA)	ENSP00000497055.1:n.*308-18_*308-17del
ENST00000486121.6:c.1045-18_1045-17del (GLA)
ENST00000649178.1:c.1123-18_1123-17del (GLA)	ENSP00000498186.1:n.1123-18_1123-17del
ENST00000674127.1:c.1100-18_1100-17del (GLA)	ENSP00000501044.1:n.1100-18_1100-17del
ENST00000674142.1:n.1304-18_1304-17del (GLA)
ENST00000675592.1:c.802-18_802-17del (GLA)	ENSP00000502239.1:n.802-18_802-17del
ENST00000675799.1:c.*525-18_*525-17del (GLA)	ENSP00000502661.1:n.*525-18_*525-17del
ENST00000675968.1:n.3871-18_3871-17del (GLA)
ENST00000676156.1:c.964-18_964-17del (GLA)	ENSP00000501730.1:n.964-18_964-17del
ENST00000676372.1:c.1066-18_1066-17del (GLA)	ENSP00000502805.1:n.1066-18_1066-17del
ENST00000218516.3:c.1000-18_1000-17del (GLA)	ENSP00000218516.3:n.1000-18_1000-17del
ENST00000409170.3:c.300+2662_300+2663del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2662_300+2663del
ENST00000409338.5:c.177+6297_177+6298del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6297_177+6298del
ENST00000466414.1:n.326-18_326-17del (GLA)
ENST00000493905.6:c.*388-18_*388-17del (GLA)	ENSP00000476935.1:n.*388-18_*388-17del
NM_000169.2:c.1000-18_1000-17del , LRG_672t1:c.1000-18_1000-17del (GLA)	NP_000160.1:n.1000-18_1000-17del
NM_001199973.1:c.408+2662_408+2663del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2662_408+2663del
NM_001199974.1:c.285+6297_285+6298del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6297_285+6298del
XR_938397.1:n.1085-18_1085-17del (GLA)
XR_938397.2:n.1106-18_1106-17del (GLA)
NM_001199973.2:c.300+2662_300+2663del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2662_300+2663del
NM_001199974.2:c.177+6297_177+6298del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6297_177+6298del
NM_000169.3:c.1000-18_1000-17del (GLA) MANE Select	NP_000160.1:n.1000-18_1000-17del
NR_164783.1:n.1079-18_1079-17del (GLA)