Canonical Allele Identifier: CA2695234929

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398828del , CM000685.2:g.101398828del	GRCh38
NC_000023.10:g.100653816del , CM000685.1:g.100653816del	GRCh37
NC_000023.9:g.100540472del	NCBI36
NG_007119.1:g.14137del , LRG_672:g.14137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*205del (GLA)	ENSP00000501124.2:n.*205del
ENST00000674127.2:c.*262del (GLA)	ENSP00000501044.2:n.*262del
ENST00000710365.1:c.834del (GLA)	ENSP00000518234.1:p.Ile278MetfsTer16
ENST00000218516.4:c.759del (GLA) MANE Select	ENSP00000218516.4:p.Ile253MetfsTer16
ENST00000466414.2:n.678del (GLA)
ENST00000468823.2:n.1694del (GLA)
ENST00000479445.2:n.1156del (GLA)
ENST00000480513.6:c.*67del (GLA)	ENSP00000497055.1:n.*67del
ENST00000486121.6:c.804del (GLA)
ENST00000649178.1:c.882del (GLA)	ENSP00000498186.1:p.Ile294MetfsTer16
ENST00000674127.1:c.859del (GLA)	ENSP00000501044.1:n.859del
ENST00000674142.1:n.846del (GLA)
ENST00000674634.2:c.759del (GLA)	ENSP00000502629.2:p.Ile253MetfsTer16
ENST00000675592.1:c.759del (GLA)	ENSP00000502239.1:p.Ile253MetfsTer29
ENST00000675799.1:c.*67del (GLA)	ENSP00000502661.1:n.*67del
ENST00000675968.1:n.3413del (GLA)
ENST00000676156.1:c.723del (GLA)	ENSP00000501730.1:p.Ile241MetfsTer16
ENST00000676372.1:c.759del (GLA)	ENSP00000502805.1:p.Ile253MetfsTer16
ENST00000218516.3:c.759del (GLA)	ENSP00000218516.3:p.Ile253MetfsTer16
ENST00000409170.3:c.300+3371del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3371del
ENST00000409338.5:c.177+7006del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7006del
ENST00000468823.1:n.308del (GLA)
ENST00000480513.5:n.597del (GLA)
ENST00000493905.6:c.*147del (GLA)	ENSP00000476935.1:n.*147del
NM_000169.2:c.759del , LRG_672t1:c.759del (GLA)	NP_000160.1:p.Ile253MetfsTer16
NM_001199973.1:c.408+3371del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3371del
NM_001199974.1:c.285+7006del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7006del
XR_938397.1:n.844del (GLA)
XR_938397.2:n.865del (GLA)
NM_001199973.2:c.300+3371del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3371del
NM_001199974.2:c.177+7006del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7006del
NM_000169.3:c.759del (GLA) MANE Select	NP_000160.1:p.Ile253MetfsTer16
NR_164783.1:n.838del (GLA)