Canonical Allele Identifier: CA1135846614

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v3: X-101401811-TGA-T
• gnomAD v4: X-101401811-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401812_101401813del , CM000685.2:g.101401812_101401813del	GRCh38
NC_000023.10:g.100656800_100656801del , CM000685.1:g.100656800_100656801del	GRCh37
NC_000023.9:g.100543456_100543457del	NCBI36
NG_007119.1:g.11151_11152del , LRG_672:g.11151_11152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.370-4_370-3del (GLA)	ENSP00000501124.2:n.370-4_370-3del
ENST00000674127.2:c.370-4_370-3del (GLA)	ENSP00000501044.2:n.370-4_370-3del
ENST00000710365.1:c.445-4_445-3del (GLA)	ENSP00000518234.1:n.445-4_445-3del
ENST00000218516.4:c.370-4_370-3del (GLA) MANE Select	ENSP00000218516.4:n.370-4_370-3del
ENST00000466414.2:n.289-4_289-3del (GLA)
ENST00000468823.2:n.431-4_431-3del (GLA)
ENST00000479445.2:n.368-4_368-3del (GLA)
ENST00000480513.6:c.370-4_370-3del (GLA)	ENSP00000497055.1:n.370-4_370-3del
ENST00000486121.6:c.300-4_300-3del (GLA)
ENST00000649178.1:c.493-4_493-3del (GLA)	ENSP00000498186.1:n.493-4_493-3del
ENST00000674127.1:c.298-4_298-3del (GLA)	ENSP00000501044.1:n.298-4_298-3del
ENST00000674142.1:n.457-4_457-3del (GLA)
ENST00000674634.2:c.370-4_370-3del (GLA)	ENSP00000502629.2:n.370-4_370-3del
ENST00000675592.1:c.370-4_370-3del (GLA)	ENSP00000502239.1:n.370-4_370-3del
ENST00000675799.1:c.370-4_370-3del (GLA)	ENSP00000502661.1:n.370-4_370-3del
ENST00000675968.1:n.431-4_431-3del (GLA)
ENST00000676156.1:c.370-4_370-3del (GLA)	ENSP00000501730.1:n.370-4_370-3del
ENST00000676372.1:c.370-4_370-3del (GLA)	ENSP00000502805.1:n.370-4_370-3del
ENST00000218516.3:c.370-4_370-3del (GLA)	ENSP00000218516.3:n.370-4_370-3del
ENST00000409170.3:c.300+6355_300+6356del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6355_300+6356del
ENST00000409338.5:c.177+9990_177+9991del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9990_177+9991del
ENST00000479445.1:n.354-4_354-3del (GLA)
ENST00000480513.5:n.300-4_300-3del (GLA)
ENST00000486121.5:n.300-4_300-3del (GLA)
ENST00000493905.6:c.370-4_370-3del (GLA)	ENSP00000476935.1:n.370-4_370-3del
NM_000169.2:c.370-4_370-3del , LRG_672t1:c.370-4_370-3del (GLA)	NP_000160.1:n.370-4_370-3del
NM_001199973.1:c.408+6355_408+6356del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6355_408+6356del
NM_001199974.1:c.285+9990_285+9991del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9990_285+9991del
XR_938397.1:n.398-4_398-3del (GLA)
XR_938397.2:n.419-4_419-3del (GLA)
NM_001199973.2:c.300+6355_300+6356del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6355_300+6356del
NM_001199974.2:c.177+9990_177+9991del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9990_177+9991del
NM_000169.3:c.370-4_370-3del (GLA) MANE Select	NP_000160.1:n.370-4_370-3del
NR_164783.1:n.392-4_392-3del (GLA)