Canonical Allele Identifier: CA2499226282

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403829_101403846del , CM000685.2:g.101403829_101403846del	GRCh38
NC_000023.10:g.100658817_100658834del , CM000685.1:g.100658817_100658834del	GRCh37
NC_000023.9:g.100545473_100545490del	NCBI36
NG_007119.1:g.9121_9138del , LRG_672:g.9121_9138del
NG_016327.1:g.627_644del

Transcript Alleles

HGVS	Amino-acid Change
NM_000169.3:c.337_354del (GLA) MANE Select	NP_000160.1:p.Phe113_Arg118del
ENST00000218516.4:c.337_354del (GLA) MANE Select	ENSP00000218516.4:p.Phe113_Arg118del
NM_000169.2:c.337_354del , LRG_672t1:c.337_354del (GLA)	NP_000160.1:p.Phe113_Arg118del
NM_001199973.1:c.409-8107_409-8090del (RPL36A-HNRNPH2)	NP_001186902.1:n.409-8107_409-8090del
NM_001199973.2:c.301-8107_301-8090del (RPL36A-HNRNPH2)	NP_001186902.2:n.301-8107_301-8090del
NM_001199974.1:c.286-8107_286-8090del (RPL36A-HNRNPH2)	NP_001186903.1:n.286-8107_286-8090del
NM_001199974.2:c.178-8107_178-8090del (RPL36A-HNRNPH2)	NP_001186903.2:n.178-8107_178-8090del
NR_164783.1:n.359_376del (GLA)
ENST00000218516.3:c.337_354del (GLA)	ENSP00000218516.3:p.Phe113_Arg118del
ENST00000409170.3:c.301-8107_301-8090del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-8107_301-8090del
ENST00000409338.5:c.178-8107_178-8090del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-8107_178-8090del
ENST00000466414.2:n.256_273del (GLA)
ENST00000468823.2:n.398_415del (GLA)
ENST00000479445.1:n.321_338del (GLA)
ENST00000479445.2:n.335_352del (GLA)
ENST00000480513.5:n.267_284del (GLA)
ENST00000480513.6:c.337_354del (GLA)	ENSP00000497055.1:p.Phe113_Arg118del
ENST00000486121.5:n.267_284del (GLA)
ENST00000486121.6:c.267_284del (GLA)
ENST00000486121.7:c.337_354del (GLA)	ENSP00000501124.2:p.Phe113_Arg118del
ENST00000493905.6:c.337_354del (GLA)	ENSP00000476935.1:p.Phe113_Arg118del
ENST00000649178.1:c.460_477del (GLA)	ENSP00000498186.1:p.Phe154_Arg159del
ENST00000674127.1:c.265_282del (GLA)	ENSP00000501044.1:p.Phe89_Arg94del
ENST00000674127.2:c.337_354del (GLA)	ENSP00000501044.2:p.Phe113_Arg118del
ENST00000674142.1:n.424_441del (GLA)
ENST00000674634.2:c.337_354del (GLA)	ENSP00000502629.2:p.Phe113_Arg118del
ENST00000675592.1:c.337_354del (GLA)	ENSP00000502239.1:p.Phe113_Arg118del
ENST00000675799.1:c.337_354del (GLA)	ENSP00000502661.1:p.Phe113_Arg118del
ENST00000675968.1:n.398_415del (GLA)
ENST00000676156.1:c.337_354del (GLA)	ENSP00000501730.1:p.Phe113_Arg118del
ENST00000676372.1:c.337_354del (GLA)	ENSP00000502805.1:p.Phe113_Arg118del
ENST00000710365.1:c.412_429del (GLA)	ENSP00000518234.1:p.Phe138_Arg143del
XR_938397.1:n.365_382del (GLA)
XR_938397.2:n.386_403del (GLA)