Canonical Allele Identifier: CA352965

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 222420
• ClinVar RCV Id: RCV001192398
• ClinVar Variation Id: 1323012
• ClinVar RCV Id: RCV001783376
• dbSNP Id: rs869312426
• MyVariant Identifiers: chrX:g.100653551_100653554del (hg19) ; chrX:g.101398563_101398566del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398566_101398569del , CM000685.2:g.101398566_101398569del	GRCh38
NC_000023.10:g.100653554_100653557del , CM000685.1:g.100653554_100653557del	GRCh37
NC_000023.9:g.100540210_100540213del	NCBI36
NG_007119.1:g.14398_14401del , LRG_672:g.14398_14401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*249_*252del (GLA)
ENST00000674127.2:c.*306_*309del (GLA)
ENST00000710365.1:c.878_881del (GLA)
ENST00000218516.4:c.803_806del (GLA)
ENST00000466414.2:n.939_942del (GLA)
ENST00000468823.2:n.1955_1958del (GLA)
ENST00000479445.2:n.1417_1420del (GLA)
ENST00000480513.6:c.*111_*114del (GLA)
ENST00000486121.6:c.848_851del (GLA)
ENST00000649178.1:c.926_929del (GLA)
ENST00000674127.1:c.903_906del (GLA)
ENST00000674142.1:n.1107_1110del (GLA)
ENST00000674634.2:c.803_806del (GLA)
ENST00000675592.1:c.801+219_801+222del (GLA)	ENSP00000502239.1:n.801+219_801+222del
ENST00000675799.1:c.*328_*331del (GLA)	ENSP00000502661.1:n.*328_*331del
ENST00000675968.1:n.3674_3677del (GLA)
ENST00000676156.1:c.767_770del (GLA)
ENST00000676372.1:c.869_872del (GLA)
ENST00000218516.3:c.803_806del (GLA)
ENST00000409170.3:c.300+3109_300+3112del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3109_300+3112del
ENST00000409338.5:c.177+6744_177+6747del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6744_177+6747del
ENST00000466414.1:n.129_132del (GLA)
ENST00000468823.1:n.569_572del (GLA)
ENST00000493905.6:c.*191_*194del (GLA)
NM_000169.2:c.803_806del , LRG_672t1:c.803_806del (GLA)
NM_001199973.1:c.408+3109_408+3112del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3109_408+3112del
NM_001199974.1:c.285+6744_285+6747del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6744_285+6747del
XR_938397.1:n.888_891del (GLA)
XR_938397.2:n.909_912del (GLA)
NM_001199973.2:c.300+3109_300+3112del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3109_300+3112del
NM_001199974.2:c.177+6744_177+6747del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6744_177+6747del
NM_000169.3:c.803_806del (GLA)
NR_164783.1:n.882_885del (GLA)