Canonical Allele Identifier: CA2694298746

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101400943-C-CCCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400943_101400944insCCAGG , CM000685.2:g.101400943_101400944insCCAGG	GRCh38
NC_000023.10:g.100655931_100655932insCCAGG , CM000685.1:g.100655931_100655932insCCAGG	GRCh37
NC_000023.9:g.100542587_100542588insCCAGG	NCBI36
NG_007119.1:g.12020_12021insCCTGG , LRG_672:g.12020_12021insCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.663-187_663-186insCCTGG (GLA)	ENSP00000501124.2:n.663-187_663-186insCCTGG
ENST00000674127.2:c.663-187_663-186insCCTGG (GLA)	ENSP00000501044.2:n.663-187_663-186insCCTGG
ENST00000710365.1:c.623-187_623-186insCCTGG (GLA)	ENSP00000518234.1:n.623-187_623-186insCCTGG
ENST00000218516.4:c.548-187_548-186insCCTGG (GLA) MANE Select	ENSP00000218516.4:n.548-187_548-186insCCTGG
ENST00000466414.2:n.467-187_467-186insCCTGG (GLA)
ENST00000468823.2:n.1296_1297insCCTGG (GLA)
ENST00000479445.2:n.945-187_945-186insCCTGG (GLA)
ENST00000480513.6:c.547+688_547+689insCCTGG (GLA)	ENSP00000497055.1:n.547+688_547+689insCCTGG
ENST00000486121.6:c.593-187_593-186insCCTGG (GLA)
ENST00000649178.1:c.671-187_671-186insCCTGG (GLA)	ENSP00000498186.1:n.671-187_671-186insCCTGG
ENST00000674127.1:c.591-187_591-186insCCTGG (GLA)	ENSP00000501044.1:n.591-187_591-186insCCTGG
ENST00000674142.1:n.635-187_635-186insCCTGG (GLA)
ENST00000674634.2:c.548-187_548-186insCCTGG (GLA)	ENSP00000502629.2:n.548-187_548-186insCCTGG
ENST00000675592.1:c.548-187_548-186insCCTGG (GLA)	ENSP00000502239.1:n.548-187_548-186insCCTGG
ENST00000675799.1:c.547+688_547+689insCCTGG (GLA)	ENSP00000502661.1:n.547+688_547+689insCCTGG
ENST00000675968.1:n.1296_1297insCCTGG (GLA)
ENST00000676156.1:c.512-187_512-186insCCTGG (GLA)	ENSP00000501730.1:n.512-187_512-186insCCTGG
ENST00000676372.1:c.548-187_548-186insCCTGG (GLA)	ENSP00000502805.1:n.548-187_548-186insCCTGG
ENST00000218516.3:c.548-187_548-186insCCTGG (GLA)	ENSP00000218516.3:n.548-187_548-186insCCTGG
ENST00000409170.3:c.300+5486_300+5487insCCAGG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5486_300+5487insCCAGG
ENST00000409338.5:c.177+9121_177+9122insCCAGG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9121_177+9122insCCAGG
ENST00000480513.5:n.477+688_477+689insCCTGG (GLA)
ENST00000486121.5:n.593-187_593-186insCCTGG (GLA)
ENST00000493905.6:c.548-187_548-186insCCTGG (GLA)	ENSP00000476935.1:n.548-187_548-186insCCTGG
NM_000169.2:c.548-187_548-186insCCTGG , LRG_672t1:c.548-187_548-186insCCTGG (GLA)	NP_000160.1:n.548-187_548-186insCCTGG
NM_001199973.1:c.408+5486_408+5487insCCAGG (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5486_408+5487insCCAGG
NM_001199974.1:c.285+9121_285+9122insCCAGG (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9121_285+9122insCCAGG
XR_938397.1:n.576-187_576-186insCCTGG (GLA)
XR_938397.2:n.597-187_597-186insCCTGG (GLA)
NM_001199973.2:c.300+5486_300+5487insCCAGG (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5486_300+5487insCCAGG
NM_001199974.2:c.177+9121_177+9122insCCAGG (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9121_177+9122insCCAGG
NM_000169.3:c.548-187_548-186insCCTGG (GLA) MANE Select	NP_000160.1:n.548-187_548-186insCCTGG
NR_164783.1:n.570-187_570-186insCCTGG (GLA)