Canonical Allele Identifier: CA2694298195

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101398125-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398127dup , CM000685.2:g.101398127dup	GRCh38
NC_000023.10:g.100653115dup , CM000685.1:g.100653115dup	GRCh37
NC_000023.9:g.100539771dup	NCBI36
NG_007119.1:g.14838dup , LRG_672:g.14838dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-27dup (GLA)	ENSP00000501124.2:n.*446-27dup
ENST00000674127.2:c.*503-27dup (GLA)	ENSP00000501044.2:n.*503-27dup
ENST00000710365.1:c.1075-27dup (GLA)	ENSP00000518234.1:n.1075-27dup
ENST00000218516.4:c.1000-27dup (GLA) MANE Select	ENSP00000218516.4:n.1000-27dup
ENST00000466414.2:n.1136-27dup (GLA)
ENST00000468823.2:n.2395dup (GLA)
ENST00000479445.2:n.1614-27dup (GLA)
ENST00000480513.6:c.*308-27dup (GLA)	ENSP00000497055.1:n.*308-27dup
ENST00000486121.6:c.1045-27dup (GLA)
ENST00000649178.1:c.1123-27dup (GLA)	ENSP00000498186.1:n.1123-27dup
ENST00000674127.1:c.1100-27dup (GLA)	ENSP00000501044.1:n.1100-27dup
ENST00000674142.1:n.1304-27dup (GLA)
ENST00000675592.1:c.802-27dup (GLA)	ENSP00000502239.1:n.802-27dup
ENST00000675799.1:c.*525-27dup (GLA)	ENSP00000502661.1:n.*525-27dup
ENST00000675968.1:n.3871-27dup (GLA)
ENST00000676156.1:c.964-27dup (GLA)	ENSP00000501730.1:n.964-27dup
ENST00000676372.1:c.1066-27dup (GLA)	ENSP00000502805.1:n.1066-27dup
ENST00000218516.3:c.1000-27dup (GLA)	ENSP00000218516.3:n.1000-27dup
ENST00000409170.3:c.300+2670dup (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2670dup
ENST00000409338.5:c.177+6305dup (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6305dup
ENST00000466414.1:n.326-27dup (GLA)
ENST00000493905.6:c.*388-27dup (GLA)	ENSP00000476935.1:n.*388-27dup
NM_000169.2:c.1000-27dup , LRG_672t1:c.1000-27dup (GLA)	NP_000160.1:n.1000-27dup
NM_001199973.1:c.408+2670dup (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2670dup
NM_001199974.1:c.285+6305dup (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6305dup
XR_938397.1:n.1085-27dup (GLA)
XR_938397.2:n.1106-27dup (GLA)
NM_001199973.2:c.300+2670dup (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2670dup
NM_001199974.2:c.177+6305dup (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6305dup
NM_000169.3:c.1000-27dup (GLA) MANE Select	NP_000160.1:n.1000-27dup
NR_164783.1:n.1079-27dup (GLA)