Canonical Allele Identifier: CA352608

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398940_101398942del , CM000685.2:g.101398940_101398942del	GRCh38
NC_000023.10:g.100653928_100653930del , CM000685.1:g.100653928_100653930del	GRCh37
NC_000023.9:g.100540584_100540586del	NCBI36
NG_007119.1:g.14024_14026del , LRG_672:g.14024_14026del

Transcript Alleles

HGVS	Amino-acid Change
NM_000169.3:c.646_648del (GLA) MANE Select	NP_000160.1:p.Tyr216del
ENST00000218516.4:c.646_648del (GLA) MANE Select	ENSP00000218516.4:p.Tyr216del
NM_000169.2:c.646_648del , LRG_672t1:c.646_648del (GLA)	NP_000160.1:p.Tyr216del
NM_001199973.1:c.408+3483_408+3485del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3483_408+3485del
NM_001199973.2:c.300+3483_300+3485del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3483_300+3485del
NM_001199974.1:c.285+7118_285+7120del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7118_285+7120del
NM_001199974.2:c.177+7118_177+7120del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7118_177+7120del
NR_164783.1:n.725_727del (GLA)
ENST00000218516.3:c.646_648del (GLA)	ENSP00000218516.3:p.Tyr216del
ENST00000409170.3:c.300+3483_300+3485del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3483_300+3485del
ENST00000409338.5:c.177+7118_177+7120del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7118_177+7120del
ENST00000466414.2:n.565_567del (GLA)
ENST00000468823.1:n.195_197del (GLA)
ENST00000468823.2:n.1581_1583del (GLA)
ENST00000479445.2:n.1043_1045del (GLA)
ENST00000480513.5:n.484_486del (GLA)
ENST00000480513.6:c.554_556del (GLA)	ENSP00000497055.1:p.Leu185del
ENST00000486121.5:n.691_693del (GLA)
ENST00000486121.6:c.691_693del (GLA)
ENST00000486121.7:c.*92_*94del (GLA)	ENSP00000501124.2:n.*92_*94del
ENST00000493905.6:c.*34_*36del (GLA)	ENSP00000476935.1:n.*34_*36del
ENST00000649178.1:c.769_771del (GLA)	ENSP00000498186.1:p.Tyr257del
ENST00000674127.1:c.746_748del (GLA)	ENSP00000501044.1:n.746_748del
ENST00000674127.2:c.*149_*151del (GLA)	ENSP00000501044.2:n.*149_*151del
ENST00000674142.1:n.733_735del (GLA)
ENST00000674634.2:c.646_648del (GLA)	ENSP00000502629.2:p.Tyr216del
ENST00000675592.1:c.646_648del (GLA)	ENSP00000502239.1:p.Tyr216del
ENST00000675799.1:c.554_556del (GLA)	ENSP00000502661.1:p.Leu185del
ENST00000675968.1:n.3300_3302del (GLA)
ENST00000676156.1:c.610_612del (GLA)	ENSP00000501730.1:p.Tyr204del
ENST00000676372.1:c.646_648del (GLA)	ENSP00000502805.1:p.Tyr216del
ENST00000710365.1:c.721_723del (GLA)	ENSP00000518234.1:p.Tyr241del
XR_938397.1:n.731_733del (GLA)
XR_938397.2:n.752_754del (GLA)