Canonical Allele Identifier: CA2695234955

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400684_101400687delinsTTT , CM000685.2:g.101400684_101400687delinsTTT	GRCh38
NC_000023.10:g.100655672_100655675delinsTTT , CM000685.1:g.100655672_100655675delinsTTT	GRCh37
NC_000023.9:g.100542328_100542331delinsTTT	NCBI36
NG_007119.1:g.12277_12280delinsAAA , LRG_672:g.12277_12280delinsAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*64_*67delinsAAA (GLA)	ENSP00000501124.2:n.*64_*67delinsAAA
ENST00000674127.2:c.*64_*67delinsAAA (GLA)	ENSP00000501044.2:n.*64_*67delinsAAA
ENST00000710365.1:c.693_696delinsAAA (GLA)	ENSP00000518234.1:p.Tyr232LysfsTer?
ENST00000218516.4:c.618_621delinsAAA (GLA) MANE Select	ENSP00000218516.4:p.Tyr207LysfsTer?
ENST00000466414.2:n.537_540delinsAAA (GLA)
ENST00000468823.2:n.1553_1556delinsAAA (GLA)
ENST00000479445.2:n.1015_1018delinsAAA (GLA)
ENST00000480513.6:c.547+945_547+948delinsAAA (GLA)	ENSP00000497055.1:n.547+945_547+948delinsAAA
ENST00000486121.6:c.663_666delinsAAA (GLA)
ENST00000649178.1:c.741_744delinsAAA (GLA)	ENSP00000498186.1:p.Tyr248LysfsTer?
ENST00000674127.1:c.661_664delinsAAA (GLA)	ENSP00000501044.1:n.661_664delinsAAA
ENST00000674142.1:n.705_708delinsAAA (GLA)
ENST00000674634.2:c.618_621delinsAAA (GLA)	ENSP00000502629.2:p.Tyr207LysfsTer?
ENST00000675592.1:c.618_621delinsAAA (GLA)	ENSP00000502239.1:p.Tyr207LysfsTer?
ENST00000675799.1:c.547+945_547+948delinsAAA (GLA)	ENSP00000502661.1:n.547+945_547+948delinsAAA
ENST00000675968.1:n.1553_1556delinsAAA (GLA)
ENST00000676156.1:c.582_585delinsAAA (GLA)	ENSP00000501730.1:p.Tyr195LysfsTer?
ENST00000676372.1:c.618_621delinsAAA (GLA)	ENSP00000502805.1:p.Tyr207LysfsTer?
ENST00000218516.3:c.618_621delinsAAA (GLA)	ENSP00000218516.3:p.Tyr207LysfsTer?
ENST00000409170.3:c.300+5227_300+5230delinsTTT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5227_300+5230delinsTTT
ENST00000409338.5:c.177+8862_177+8865delinsTTT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8862_177+8865delinsTTT
ENST00000468823.1:n.167_170delinsAAA (GLA)
ENST00000480513.5:n.477+945_477+948delinsAAA (GLA)
ENST00000486121.5:n.663_666delinsAAA (GLA)
ENST00000493905.6:c.618_621delinsAAA (GLA)	ENSP00000476935.1:p.Tyr207LysfsTer?
NM_000169.2:c.618_621delinsAAA , LRG_672t1:c.618_621delinsAAA (GLA)	NP_000160.1:p.Tyr207LysfsTer?
NM_001199973.1:c.408+5227_408+5230delinsTTT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5227_408+5230delinsTTT
NM_001199974.1:c.285+8862_285+8865delinsTTT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8862_285+8865delinsTTT
XR_938397.1:n.646_649delinsAAA (GLA)
XR_938397.2:n.667_670delinsAAA (GLA)
NM_001199973.2:c.300+5227_300+5230delinsTTT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5227_300+5230delinsTTT
NM_001199974.2:c.177+8862_177+8865delinsTTT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8862_177+8865delinsTTT
NM_000169.3:c.618_621delinsAAA (GLA) MANE Select	NP_000160.1:p.Tyr207LysfsTer?
NR_164783.1:n.640_643delinsAAA (GLA)