Canonical Allele Identifier: CA2695234927

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398824_101398825del , CM000685.2:g.101398824_101398825del	GRCh38
NC_000023.10:g.100653812_100653813del , CM000685.1:g.100653812_100653813del	GRCh37
NC_000023.9:g.100540468_100540469del	NCBI36
NG_007119.1:g.14139_14140del , LRG_672:g.14139_14140del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*207_*208del (GLA)	ENSP00000501124.2:n.*207_*208del
ENST00000674127.2:c.*264_*265del (GLA)	ENSP00000501044.2:n.*264_*265del
ENST00000710365.1:c.836_837del (GLA)	ENSP00000518234.1:p.Val279GlyfsTer10
ENST00000218516.4:c.761_762del (GLA) MANE Select	ENSP00000218516.4:p.Val254GlyfsTer10
ENST00000466414.2:n.680_681del (GLA)
ENST00000468823.2:n.1696_1697del (GLA)
ENST00000479445.2:n.1158_1159del (GLA)
ENST00000480513.6:c.*69_*70del (GLA)	ENSP00000497055.1:n.*69_*70del
ENST00000486121.6:c.806_807del (GLA)
ENST00000649178.1:c.884_885del (GLA)	ENSP00000498186.1:p.Val295GlyfsTer10
ENST00000674127.1:c.861_862del (GLA)	ENSP00000501044.1:n.861_862del
ENST00000674142.1:n.848_849del (GLA)
ENST00000674634.2:c.761_762del (GLA)	ENSP00000502629.2:p.Val254GlyfsTer10
ENST00000675592.1:c.761_762del (GLA)	ENSP00000502239.1:p.Val254GlyfsTer10
ENST00000675799.1:c.*69_*70del (GLA)	ENSP00000502661.1:n.*69_*70del
ENST00000675968.1:n.3415_3416del (GLA)
ENST00000676156.1:c.725_726del (GLA)	ENSP00000501730.1:p.Val242GlyfsTer10
ENST00000676372.1:c.761_762del (GLA)	ENSP00000502805.1:p.Val254GlyfsTer10
ENST00000218516.3:c.761_762del (GLA)	ENSP00000218516.3:p.Val254GlyfsTer10
ENST00000409170.3:c.300+3367_300+3368del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3367_300+3368del
ENST00000409338.5:c.177+7002_177+7003del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7002_177+7003del
ENST00000468823.1:n.310_311del (GLA)
ENST00000480513.5:n.599_600del (GLA)
ENST00000493905.6:c.*149_*150del (GLA)	ENSP00000476935.1:n.*149_*150del
NM_000169.2:c.761_762del , LRG_672t1:c.761_762del (GLA)	NP_000160.1:p.Val254GlyfsTer10
NM_001199973.1:c.408+3367_408+3368del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3367_408+3368del
NM_001199974.1:c.285+7002_285+7003del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7002_285+7003del
XR_938397.1:n.846_847del (GLA)
XR_938397.2:n.867_868del (GLA)
NM_001199973.2:c.300+3367_300+3368del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3367_300+3368del
NM_001199974.2:c.177+7002_177+7003del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7002_177+7003del
NM_000169.3:c.761_762del (GLA) MANE Select	NP_000160.1:p.Val254GlyfsTer10
NR_164783.1:n.840_841del (GLA)