Canonical Allele Identifier: CA2695234913

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398483_101398494del , CM000685.2:g.101398483_101398494del	GRCh38
NC_000023.10:g.100653471_100653482del , CM000685.1:g.100653471_100653482del	GRCh37
NC_000023.9:g.100540127_100540138del	NCBI36
NG_007119.1:g.14470_14481del , LRG_672:g.14470_14481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*321_*332del (GLA)	ENSP00000501124.2:n.*321_*332del
ENST00000674127.2:c.*378_*389del (GLA)	ENSP00000501044.2:n.*378_*389del
ENST00000710365.1:c.950_961del (GLA)	ENSP00000518234.1:p.Ala317_Met321delinsVal
ENST00000218516.4:c.875_886del (GLA) MANE Select	ENSP00000218516.4:p.Ala292_Met296delinsVal
ENST00000466414.2:n.1011_1022del (GLA)
ENST00000468823.2:n.2027_2038del (GLA)
ENST00000479445.2:n.1489_1500del (GLA)
ENST00000480513.6:c.*183_*194del (GLA)	ENSP00000497055.1:n.*183_*194del
ENST00000486121.6:c.920_931del (GLA)
ENST00000649178.1:c.998_1009del (GLA)	ENSP00000498186.1:p.Ala333_Met337delinsVal
ENST00000674127.1:c.975_986del (GLA)	ENSP00000501044.1:n.975_986del
ENST00000674142.1:n.1179_1190del (GLA)
ENST00000674634.2:c.875_886del (GLA)	ENSP00000502629.2:p.Ala292_Met296delinsVal
ENST00000675592.1:c.801+291_801+302del (GLA)	ENSP00000502239.1:n.801+291_801+302del
ENST00000675799.1:c.*400_*411del (GLA)	ENSP00000502661.1:n.*400_*411del
ENST00000675968.1:n.3746_3757del (GLA)
ENST00000676156.1:c.839_850del (GLA)	ENSP00000501730.1:p.Ala280_Met284delinsVal
ENST00000676372.1:c.941_952del (GLA)	ENSP00000502805.1:n.941_952del
ENST00000218516.3:c.875_886del (GLA)	ENSP00000218516.3:p.Ala292_Met296delinsVal
ENST00000409170.3:c.300+3026_300+3037del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3026_300+3037del
ENST00000409338.5:c.177+6661_177+6672del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6661_177+6672del
ENST00000466414.1:n.201_212del (GLA)
ENST00000493905.6:c.*263_*274del (GLA)	ENSP00000476935.1:n.*263_*274del
NM_000169.2:c.875_886del , LRG_672t1:c.875_886del (GLA)	NP_000160.1:p.Ala292_Met296delinsVal
NM_001199973.1:c.408+3026_408+3037del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3026_408+3037del
NM_001199974.1:c.285+6661_285+6672del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6661_285+6672del
XR_938397.1:n.960_971del (GLA)
XR_938397.2:n.981_992del (GLA)
NM_001199973.2:c.300+3026_300+3037del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3026_300+3037del
NM_001199974.2:c.177+6661_177+6672del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6661_177+6672del
NM_000169.3:c.875_886del (GLA) MANE Select	NP_000160.1:p.Ala292_Met296delinsVal
NR_164783.1:n.954_965del (GLA)