Canonical Allele Identifier: CA2695234967

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401632_101401640delinsG , CM000685.2:g.101401632_101401640delinsG	GRCh38
NC_000023.10:g.100656620_100656628delinsG , CM000685.1:g.100656620_100656628delinsG	GRCh37
NC_000023.9:g.100543276_100543284delinsG	NCBI36
NG_007119.1:g.11324_11332delinsC , LRG_672:g.11324_11332delinsC

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.539_547delinsC (GLA)	ENSP00000501124.2:p.Leu180SerfsTer?
ENST00000674127.2:c.539_547delinsC (GLA)	ENSP00000501044.2:p.Leu180SerfsTer?
ENST00000710365.1:c.614_622delinsC (GLA)	ENSP00000518234.1:p.Leu205SerfsTer3
ENST00000218516.4:c.539_547delinsC (GLA) MANE Select	ENSP00000218516.4:p.Leu180SerfsTer3
ENST00000466414.2:n.458_466delinsC (GLA)
ENST00000468823.2:n.600_608delinsC (GLA)
ENST00000479445.2:n.537_545delinsC (GLA)
ENST00000480513.6:c.539_547delinsC (GLA)	ENSP00000497055.1:p.Leu180SerfsTer27
ENST00000486121.6:c.469_477delinsC (GLA)
ENST00000649178.1:c.662_670delinsC (GLA)	ENSP00000498186.1:p.Leu221SerfsTer3
ENST00000674127.1:c.467_475delinsC (GLA)	ENSP00000501044.1:p.Leu156SerfsTer?
ENST00000674142.1:n.626_634delinsC (GLA)
ENST00000674634.2:c.539_547delinsC (GLA)	ENSP00000502629.2:p.Leu180SerfsTer3
ENST00000675592.1:c.539_547delinsC (GLA)	ENSP00000502239.1:p.Leu180SerfsTer3
ENST00000675799.1:c.539_547delinsC (GLA)	ENSP00000502661.1:p.Leu180SerfsTer27
ENST00000675968.1:n.600_608delinsC (GLA)
ENST00000676156.1:c.511+28_511+36delinsC (GLA)	ENSP00000501730.1:n.511+28_511+36delinsC
ENST00000676372.1:c.539_547delinsC (GLA)	ENSP00000502805.1:p.Leu180SerfsTer3
ENST00000218516.3:c.539_547delinsC (GLA)	ENSP00000218516.3:p.Leu180SerfsTer3
ENST00000409170.3:c.300+6175_300+6183delinsG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6175_300+6183delinsG
ENST00000409338.5:c.177+9810_177+9818delinsG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9810_177+9818delinsG
ENST00000479445.1:n.523_531delinsC (GLA)
ENST00000480513.5:n.469_477delinsC (GLA)
ENST00000486121.5:n.469_477delinsC (GLA)
ENST00000493905.6:c.539_547delinsC (GLA)	ENSP00000476935.1:p.Leu180SerfsTer3
NM_000169.2:c.539_547delinsC , LRG_672t1:c.539_547delinsC (GLA)	NP_000160.1:p.Leu180SerfsTer3
NM_001199973.1:c.408+6175_408+6183delinsG (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6175_408+6183delinsG
NM_001199974.1:c.285+9810_285+9818delinsG (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9810_285+9818delinsG
XR_938397.1:n.567_575delinsC (GLA)
XR_938397.2:n.588_596delinsC (GLA)
NM_001199973.2:c.300+6175_300+6183delinsG (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6175_300+6183delinsG
NM_001199974.2:c.177+9810_177+9818delinsG (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9810_177+9818delinsG
NM_000169.3:c.539_547delinsC (GLA) MANE Select	NP_000160.1:p.Leu180SerfsTer3
NR_164783.1:n.561_569delinsC (GLA)