Canonical Allele Identifier: CA2448298054

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 997922
• ClinVar RCV Id: RCV001293579
• dbSNP Id: rs1928173731

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398545_101398546del , CM000685.2:g.101398545_101398546del	GRCh38
NC_000023.10:g.100653533_100653534del , CM000685.1:g.100653533_100653534del	GRCh37
NC_000023.9:g.100540189_100540190del	NCBI36
NG_007119.1:g.14419_14420del , LRG_672:g.14419_14420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*270_*271del (GLA)	ENSP00000501124.2:n.*270_*271del
ENST00000674127.2:c.*327_*328del (GLA)	ENSP00000501044.2:n.*327_*328del
ENST00000710365.1:c.899_900del (GLA)	ENSP00000518234.1:p.Leu300GlnfsTer23
ENST00000218516.4:c.824_825del (GLA) MANE Select	ENSP00000218516.4:p.Leu275GlnfsTer23
ENST00000466414.2:n.960_961del (GLA)
ENST00000468823.2:n.1976_1977del (GLA)
ENST00000479445.2:n.1438_1439del (GLA)
ENST00000480513.6:c.*132_*133del (GLA)	ENSP00000497055.1:n.*132_*133del
ENST00000486121.6:c.869_870del (GLA)
ENST00000649178.1:c.947_948del (GLA)	ENSP00000498186.1:p.Leu316GlnfsTer23
ENST00000674127.1:c.924_925del (GLA)	ENSP00000501044.1:n.924_925del
ENST00000674142.1:n.1128_1129del (GLA)
ENST00000674634.2:c.824_825del (GLA)	ENSP00000502629.2:p.Leu275GlnfsTer23
ENST00000675592.1:c.801+240_801+241del (GLA)	ENSP00000502239.1:n.801+240_801+241del
ENST00000675799.1:c.*349_*350del (GLA)	ENSP00000502661.1:n.*349_*350del
ENST00000675968.1:n.3695_3696del (GLA)
ENST00000676156.1:c.788_789del (GLA)	ENSP00000501730.1:p.Leu263GlnfsTer23
ENST00000676372.1:c.890_891del (GLA)	ENSP00000502805.1:n.890_891del
ENST00000218516.3:c.824_825del (GLA)	ENSP00000218516.3:p.Leu275GlnfsTer23
ENST00000409170.3:c.300+3088_300+3089del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3088_300+3089del
ENST00000409338.5:c.177+6723_177+6724del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6723_177+6724del
ENST00000466414.1:n.150_151del (GLA)
ENST00000468823.1:n.590_591del (GLA)
ENST00000493905.6:c.*212_*213del (GLA)	ENSP00000476935.1:n.*212_*213del
NM_000169.2:c.824_825del , LRG_672t1:c.824_825del (GLA)	NP_000160.1:p.Leu275GlnfsTer23
NM_001199973.1:c.408+3088_408+3089del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3088_408+3089del
NM_001199974.1:c.285+6723_285+6724del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6723_285+6724del
XR_938397.1:n.909_910del (GLA)
XR_938397.2:n.930_931del (GLA)
NM_001199973.2:c.300+3088_300+3089del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3088_300+3089del
NM_001199974.2:c.177+6723_177+6724del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6723_177+6724del
NM_000169.3:c.824_825del (GLA) MANE Select	NP_000160.1:p.Leu275GlnfsTer23
NR_164783.1:n.903_904del (GLA)