Canonical Allele Identifier: CA2695235917

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407779_101407780del , CM000685.2:g.101407779_101407780del	GRCh38
NC_000023.10:g.100662767_100662768del , CM000685.1:g.100662767_100662768del	GRCh37
NC_000023.9:g.100549423_100549424del	NCBI36
NG_007119.1:g.5184_5185del , LRG_672:g.5184_5185del
NG_016327.1:g.4577_4578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.124_125del (GLA)	ENSP00000501124.2:p.Met42GlyfsTer13
ENST00000674127.2:c.124_125del (GLA)	ENSP00000501044.2:p.Met42GlyfsTer13
ENST00000710365.1:c.124_125del (GLA)	ENSP00000518234.1:p.Met42GlyfsTer13
ENST00000218516.4:c.124_125del (GLA) MANE Select	ENSP00000218516.4:p.Met42GlyfsTer13
ENST00000466414.2:n.43_44del (GLA)
ENST00000468823.2:n.185_186del (GLA)
ENST00000479445.2:n.122_123del (GLA)
ENST00000480513.6:c.124_125del (GLA)	ENSP00000497055.1:p.Met42GlyfsTer13
ENST00000486121.6:c.54_55del (GLA)
ENST00000649178.1:c.124_125del (GLA)	ENSP00000498186.1:p.Met42GlyfsTer13
ENST00000674127.1:c.52_53del (GLA)	ENSP00000501044.1:p.Met18GlyfsTer13
ENST00000674142.1:n.211_212del (GLA)
ENST00000674634.2:c.124_125del (GLA)	ENSP00000502629.2:p.Met42GlyfsTer13
ENST00000675592.1:c.124_125del (GLA)	ENSP00000502239.1:p.Met42GlyfsTer13
ENST00000675799.1:c.124_125del (GLA)	ENSP00000502661.1:p.Met42GlyfsTer13
ENST00000675968.1:n.185_186del (GLA)
ENST00000676156.1:c.124_125del (GLA)	ENSP00000501730.1:p.Met42GlyfsTer13
ENST00000676372.1:c.124_125del (GLA)	ENSP00000502805.1:p.Met42GlyfsTer13
ENST00000218516.3:c.124_125del (GLA)	ENSP00000218516.3:p.Met42GlyfsTer13
ENST00000409170.3:c.301-4157_301-4156del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4157_301-4156del
ENST00000409338.5:c.178-4157_178-4156del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4157_178-4156del
ENST00000479445.1:n.108_109del (GLA)
ENST00000480513.5:n.54_55del (GLA)
ENST00000486121.5:n.54_55del (GLA)
ENST00000493905.6:c.124_125del (GLA)	ENSP00000476935.1:p.Met42GlyfsTer13
NM_000169.2:c.124_125del , LRG_672t1:c.124_125del (GLA)	NP_000160.1:p.Met42GlyfsTer13
NM_001199973.1:c.409-4157_409-4156del (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4157_409-4156del
NM_001199974.1:c.286-4157_286-4156del (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4157_286-4156del
XR_938397.1:n.152_153del (GLA)
XR_938397.2:n.173_174del (GLA)
NM_001199973.2:c.301-4157_301-4156del (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4157_301-4156del
NM_001199974.2:c.178-4157_178-4156del (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4157_178-4156del
NM_000169.3:c.124_125del (GLA) MANE Select	NP_000160.1:p.Met42GlyfsTer13
NR_164783.1:n.146_147del (GLA)