Canonical Allele Identifier: CA2694298714

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101400894-G-GAGCCAAGATCGCACCACT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400894_101400895insAGCCAAGATCGCACCACT , CM000685.2:g.101400894_101400895insAGCCAAGATCGCACCACT	GRCh38
NC_000023.10:g.100655882_100655883insAGCCAAGATCGCACCACT , CM000685.1:g.100655882_100655883insAGCCAAGATCGCACCACT	GRCh37
NC_000023.9:g.100542538_100542539insAGCCAAGATCGCACCACT	NCBI36
NG_007119.1:g.12069_12070insAGTGGTGCGATCTTGGCT , LRG_672:g.12069_12070insAGTGGTGCGATCTTGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.663-138_663-137insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000501124.2:n.663-138_663-137insAGTGGTGCGATCTTGGCT
ENST00000674127.2:c.663-138_663-137insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000501044.2:n.663-138_663-137insAGTGGTGCGATCTTGGCT
ENST00000710365.1:c.623-138_623-137insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000518234.1:n.623-138_623-137insAGTGGTGCGATCTTGGCT
ENST00000218516.4:c.548-138_548-137insAGTGGTGCGATCTTGGCT (GLA) MANE Select	ENSP00000218516.4:n.548-138_548-137insAGTGGTGCGATCTTGGCT
ENST00000466414.2:n.467-138_467-137insAGTGGTGCGATCTTGGCT (GLA)
ENST00000468823.2:n.1345_1346insAGTGGTGCGATCTTGGCT (GLA)
ENST00000479445.2:n.945-138_945-137insAGTGGTGCGATCTTGGCT (GLA)
ENST00000480513.6:c.547+737_547+738insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000497055.1:n.547+737_547+738insAGTGGTGCGATCTTGGCT
ENST00000486121.6:c.593-138_593-137insAGTGGTGCGATCTTGGCT (GLA)
ENST00000649178.1:c.671-138_671-137insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000498186.1:n.671-138_671-137insAGTGGTGCGATCTTGGCT
ENST00000674127.1:c.591-138_591-137insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000501044.1:n.591-138_591-137insAGTGGTGCGATCTTGGCT
ENST00000674142.1:n.635-138_635-137insAGTGGTGCGATCTTGGCT (GLA)
ENST00000674634.2:c.548-138_548-137insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000502629.2:n.548-138_548-137insAGTGGTGCGATCTTGGCT
ENST00000675592.1:c.548-138_548-137insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000502239.1:n.548-138_548-137insAGTGGTGCGATCTTGGCT
ENST00000675799.1:c.547+737_547+738insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000502661.1:n.547+737_547+738insAGTGGTGCGATCTTGGCT
ENST00000675968.1:n.1345_1346insAGTGGTGCGATCTTGGCT (GLA)
ENST00000676156.1:c.512-138_512-137insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000501730.1:n.512-138_512-137insAGTGGTGCGATCTTGGCT
ENST00000676372.1:c.548-138_548-137insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000502805.1:n.548-138_548-137insAGTGGTGCGATCTTGGCT
ENST00000218516.3:c.548-138_548-137insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000218516.3:n.548-138_548-137insAGTGGTGCGATCTTGGCT
ENST00000409170.3:c.300+5437_300+5438insAGCCAAGATCGCACCACT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5437_300+5438insAGCCAAGATCGCACCACT
ENST00000409338.5:c.177+9072_177+9073insAGCCAAGATCGCACCACT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9072_177+9073insAGCCAAGATCGCACCACT
ENST00000480513.5:n.477+737_477+738insAGTGGTGCGATCTTGGCT (GLA)
ENST00000486121.5:n.593-138_593-137insAGTGGTGCGATCTTGGCT (GLA)
ENST00000493905.6:c.548-138_548-137insAGTGGTGCGATCTTGGCT (GLA)	ENSP00000476935.1:n.548-138_548-137insAGTGGTGCGATCTTGGCT
NM_000169.2:c.548-138_548-137insAGTGGTGCGATCTTGGCT , LRG_672t1:c.548-138_548-137insAGTGGTGCGATCTTGGCT (GLA)	NP_000160.1:n.548-138_548-137insAGTGGTGCGATCTTGGCT
NM_001199973.1:c.408+5437_408+5438insAGCCAAGATCGCACCACT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5437_408+5438insAGCCAAGATCGCACCACT
NM_001199974.1:c.285+9072_285+9073insAGCCAAGATCGCACCACT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9072_285+9073insAGCCAAGATCGCACCACT
XR_938397.1:n.576-138_576-137insAGTGGTGCGATCTTGGCT (GLA)
XR_938397.2:n.597-138_597-137insAGTGGTGCGATCTTGGCT (GLA)
NM_001199973.2:c.300+5437_300+5438insAGCCAAGATCGCACCACT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5437_300+5438insAGCCAAGATCGCACCACT
NM_001199974.2:c.177+9072_177+9073insAGCCAAGATCGCACCACT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9072_177+9073insAGCCAAGATCGCACCACT
NM_000169.3:c.548-138_548-137insAGTGGTGCGATCTTGGCT (GLA) MANE Select	NP_000160.1:n.548-138_548-137insAGTGGTGCGATCTTGGCT
NR_164783.1:n.570-138_570-137insAGTGGTGCGATCTTGGCT (GLA)