Canonical Allele Identifier: CA2694298645

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101400798-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400798_101400799insTT , CM000685.2:g.101400798_101400799insTT	GRCh38
NC_000023.10:g.100655786_100655787insTT , CM000685.1:g.100655786_100655787insTT	GRCh37
NC_000023.9:g.100542442_100542443insTT	NCBI36
NG_007119.1:g.12165_12166insAA , LRG_672:g.12165_12166insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.663-42_663-41insAA (GLA)	ENSP00000501124.2:n.663-42_663-41insAA
ENST00000674127.2:c.663-42_663-41insAA (GLA)	ENSP00000501044.2:n.663-42_663-41insAA
ENST00000710365.1:c.623-42_623-41insAA (GLA)	ENSP00000518234.1:n.623-42_623-41insAA
ENST00000218516.4:c.548-42_548-41insAA (GLA) MANE Select	ENSP00000218516.4:n.548-42_548-41insAA
ENST00000466414.2:n.467-42_467-41insAA (GLA)
ENST00000468823.2:n.1441_1442insAA (GLA)
ENST00000479445.2:n.945-42_945-41insAA (GLA)
ENST00000480513.6:c.547+833_547+834insAA (GLA)	ENSP00000497055.1:n.547+833_547+834insAA
ENST00000486121.6:c.593-42_593-41insAA (GLA)
ENST00000649178.1:c.671-42_671-41insAA (GLA)	ENSP00000498186.1:n.671-42_671-41insAA
ENST00000674127.1:c.591-42_591-41insAA (GLA)	ENSP00000501044.1:n.591-42_591-41insAA
ENST00000674142.1:n.635-42_635-41insAA (GLA)
ENST00000674634.2:c.548-42_548-41insAA (GLA)	ENSP00000502629.2:n.548-42_548-41insAA
ENST00000675592.1:c.548-42_548-41insAA (GLA)	ENSP00000502239.1:n.548-42_548-41insAA
ENST00000675799.1:c.547+833_547+834insAA (GLA)	ENSP00000502661.1:n.547+833_547+834insAA
ENST00000675968.1:n.1441_1442insAA (GLA)
ENST00000676156.1:c.512-42_512-41insAA (GLA)	ENSP00000501730.1:n.512-42_512-41insAA
ENST00000676372.1:c.548-42_548-41insAA (GLA)	ENSP00000502805.1:n.548-42_548-41insAA
ENST00000218516.3:c.548-42_548-41insAA (GLA)	ENSP00000218516.3:n.548-42_548-41insAA
ENST00000409170.3:c.300+5341_300+5342insTT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5341_300+5342insTT
ENST00000409338.5:c.177+8976_177+8977insTT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8976_177+8977insTT
ENST00000468823.1:n.55_56insAA (GLA)
ENST00000480513.5:n.477+833_477+834insAA (GLA)
ENST00000486121.5:n.593-42_593-41insAA (GLA)
ENST00000493905.6:c.548-42_548-41insAA (GLA)	ENSP00000476935.1:n.548-42_548-41insAA
NM_000169.2:c.548-42_548-41insAA , LRG_672t1:c.548-42_548-41insAA (GLA)	NP_000160.1:n.548-42_548-41insAA
NM_001199973.1:c.408+5341_408+5342insTT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5341_408+5342insTT
NM_001199974.1:c.285+8976_285+8977insTT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8976_285+8977insTT
XR_938397.1:n.576-42_576-41insAA (GLA)
XR_938397.2:n.597-42_597-41insAA (GLA)
NM_001199973.2:c.300+5341_300+5342insTT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5341_300+5342insTT
NM_001199974.2:c.177+8976_177+8977insTT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8976_177+8977insTT
NM_000169.3:c.548-42_548-41insAA (GLA) MANE Select	NP_000160.1:n.548-42_548-41insAA
NR_164783.1:n.570-42_570-41insAA (GLA)