Canonical Allele Identifier: CA2579664280

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101400666-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400670del , CM000685.2:g.101400670del	GRCh38
NC_000023.10:g.100655658del , CM000685.1:g.100655658del	GRCh37
NC_000023.9:g.100542314del	NCBI36
NG_007119.1:g.12297del , LRG_672:g.12297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*84del (GLA)	ENSP00000501124.2:n.*84del
ENST00000674127.2:c.*84del (GLA)	ENSP00000501044.2:n.*84del
ENST00000710365.1:c.713del (GLA)	ENSP00000518234.1:p.Lys238SerfsTer27
ENST00000218516.4:c.638del (GLA) MANE Select	ENSP00000218516.4:p.Lys213SerfsTer27
ENST00000466414.2:n.557del (GLA)
ENST00000468823.2:n.1573del (GLA)
ENST00000479445.2:n.1035del (GLA)
ENST00000480513.6:c.547+965del (GLA)	ENSP00000497055.1:n.547+965del
ENST00000486121.6:c.683del (GLA)
ENST00000649178.1:c.761del (GLA)	ENSP00000498186.1:p.Lys254SerfsTer27
ENST00000674127.1:c.681del (GLA)	ENSP00000501044.1:n.681del
ENST00000674142.1:n.725del (GLA)
ENST00000674634.2:c.638del (GLA)	ENSP00000502629.2:p.Lys213SerfsTer27
ENST00000675592.1:c.638del (GLA)	ENSP00000502239.1:p.Lys213SerfsTer27
ENST00000675799.1:c.547+965del (GLA)	ENSP00000502661.1:n.547+965del
ENST00000675968.1:n.1573del (GLA)
ENST00000676156.1:c.602del (GLA)	ENSP00000501730.1:p.Lys201SerfsTer27
ENST00000676372.1:c.638del (GLA)	ENSP00000502805.1:p.Lys213SerfsTer27
ENST00000218516.3:c.638del (GLA)	ENSP00000218516.3:p.Lys213SerfsTer27
ENST00000409170.3:c.300+5213del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5213del
ENST00000409338.5:c.177+8848del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8848del
ENST00000468823.1:n.187del (GLA)
ENST00000480513.5:n.477+965del (GLA)
ENST00000486121.5:n.683del (GLA)
ENST00000493905.6:c.638del (GLA)	ENSP00000476935.1:p.Lys213ArgfsTer?
NM_000169.2:c.638del , LRG_672t1:c.638del (GLA)	NP_000160.1:p.Lys213SerfsTer27
NM_001199973.1:c.408+5213del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5213del
NM_001199974.1:c.285+8848del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8848del
XR_938397.1:n.666del (GLA)
XR_938397.2:n.687del (GLA)
NM_001199973.2:c.300+5213del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5213del
NM_001199974.2:c.177+8848del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8848del
NM_000169.3:c.638del (GLA) MANE Select	NP_000160.1:p.Lys213SerfsTer27
NR_164783.1:n.660del (GLA)