Canonical Allele Identifier: CA2448298907

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400917_101400919delinsCCT , CM000685.2:g.101400917_101400919delinsCCT	GRCh38
NC_000023.10:g.100655905_100655907delinsCCT , CM000685.1:g.100655905_100655907delinsCCT	GRCh37
NC_000023.9:g.100542561_100542563delinsCCT	NCBI36
NG_007119.1:g.12045_12047delinsAGG , LRG_672:g.12045_12047delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.663-162_663-160delinsAGG (GLA)	ENSP00000501124.2:n.663-162_663-160delinsAGG
ENST00000674127.2:c.663-162_663-160delinsAGG (GLA)	ENSP00000501044.2:n.663-162_663-160delinsAGG
ENST00000710365.1:c.623-162_623-160delinsAGG (GLA)	ENSP00000518234.1:n.623-162_623-160delinsAGG
ENST00000218516.4:c.548-162_548-160delinsAGG (GLA) MANE Select	ENSP00000218516.4:n.548-162_548-160delinsAGG
ENST00000466414.2:n.467-162_467-160delinsAGG (GLA)
ENST00000468823.2:n.1321_1323delinsAGG (GLA)
ENST00000479445.2:n.945-162_945-160delinsAGG (GLA)
ENST00000480513.6:c.547+713_547+715delinsAGG (GLA)	ENSP00000497055.1:n.547+713_547+715delinsAGG
ENST00000486121.6:c.593-162_593-160delinsAGG (GLA)
ENST00000649178.1:c.671-162_671-160delinsAGG (GLA)	ENSP00000498186.1:n.671-162_671-160delinsAGG
ENST00000674127.1:c.591-162_591-160delinsAGG (GLA)	ENSP00000501044.1:n.591-162_591-160delinsAGG
ENST00000674142.1:n.635-162_635-160delinsAGG (GLA)
ENST00000674634.2:c.548-162_548-160delinsAGG (GLA)	ENSP00000502629.2:n.548-162_548-160delinsAGG
ENST00000675592.1:c.548-162_548-160delinsAGG (GLA)	ENSP00000502239.1:n.548-162_548-160delinsAGG
ENST00000675799.1:c.547+713_547+715delinsAGG (GLA)	ENSP00000502661.1:n.547+713_547+715delinsAGG
ENST00000675968.1:n.1321_1323delinsAGG (GLA)
ENST00000676156.1:c.512-162_512-160delinsAGG (GLA)	ENSP00000501730.1:n.512-162_512-160delinsAGG
ENST00000676372.1:c.548-162_548-160delinsAGG (GLA)	ENSP00000502805.1:n.548-162_548-160delinsAGG
ENST00000218516.3:c.548-162_548-160delinsAGG (GLA)	ENSP00000218516.3:n.548-162_548-160delinsAGG
ENST00000409170.3:c.300+5460_300+5462delinsCCT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5460_300+5462delinsCCT
ENST00000409338.5:c.177+9095_177+9097delinsCCT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9095_177+9097delinsCCT
ENST00000480513.5:n.477+713_477+715delinsAGG (GLA)
ENST00000486121.5:n.593-162_593-160delinsAGG (GLA)
ENST00000493905.6:c.548-162_548-160delinsAGG (GLA)	ENSP00000476935.1:n.548-162_548-160delinsAGG
NM_000169.2:c.548-162_548-160delinsAGG , LRG_672t1:c.548-162_548-160delinsAGG (GLA)	NP_000160.1:n.548-162_548-160delinsAGG
NM_001199973.1:c.408+5460_408+5462delinsCCT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5460_408+5462delinsCCT
NM_001199974.1:c.285+9095_285+9097delinsCCT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9095_285+9097delinsCCT
XR_938397.1:n.576-162_576-160delinsAGG (GLA)
XR_938397.2:n.597-162_597-160delinsAGG (GLA)
NM_001199973.2:c.300+5460_300+5462delinsCCT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5460_300+5462delinsCCT
NM_001199974.2:c.177+9095_177+9097delinsCCT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9095_177+9097delinsCCT
NM_000169.3:c.548-162_548-160delinsAGG (GLA) MANE Select	NP_000160.1:n.548-162_548-160delinsAGG
NR_164783.1:n.570-162_570-160delinsAGG (GLA)