Canonical Allele Identifier: CA913190973

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 598175
• ClinVar RCV Id: RCV000734508
• dbSNP Id: rs1569302692

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398023del , CM000685.2:g.101398023del	GRCh38
NC_000023.10:g.100653011del , CM000685.1:g.100653011del	GRCh37
NC_000023.9:g.100539667del	NCBI36
NG_007119.1:g.14942del , LRG_672:g.14942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*523del (GLA)	ENSP00000501124.2:n.*523del
ENST00000674127.2:c.*580del (GLA)	ENSP00000501044.2:n.*580del
ENST00000710365.1:c.1152del (GLA)	ENSP00000518234.1:p.Ile384MetfsTer?
ENST00000218516.4:c.1077del (GLA) MANE Select	ENSP00000218516.4:p.Ile359MetfsTer?
ENST00000466414.2:n.1213del (GLA)
ENST00000468823.2:n.2499del (GLA)
ENST00000479445.2:n.1691del (GLA)
ENST00000480513.6:c.*385del (GLA)	ENSP00000497055.1:n.*385del
ENST00000486121.6:c.1122del (GLA)
ENST00000649178.1:c.1200del (GLA)	ENSP00000498186.1:p.Ile400MetfsTer?
ENST00000674127.1:c.1177del (GLA)	ENSP00000501044.1:n.1177del
ENST00000674142.1:n.1381del (GLA)
ENST00000675592.1:c.879del (GLA)	ENSP00000502239.1:p.Ile293MetfsTer?
ENST00000675799.1:c.*602del (GLA)	ENSP00000502661.1:n.*602del
ENST00000675968.1:n.3948del (GLA)
ENST00000676156.1:c.1041del (GLA)	ENSP00000501730.1:p.Ile347MetfsTer?
ENST00000676372.1:c.1143del (GLA)	ENSP00000502805.1:n.1143del
ENST00000218516.3:c.1077del (GLA)	ENSP00000218516.3:p.Ile359MetfsTer?
ENST00000409170.3:c.300+2566del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2566del
ENST00000409338.5:c.177+6201del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6201del
ENST00000466414.1:n.403del (GLA)
ENST00000493905.6:c.*465del (GLA)	ENSP00000476935.1:n.*465del
NM_000169.2:c.1077del , LRG_672t1:c.1077del (GLA)	NP_000160.1:p.Ile359MetfsTer?
NM_001199973.1:c.408+2566del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2566del
NM_001199974.1:c.285+6201del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6201del
XR_938397.1:n.1162del (GLA)
XR_938397.2:n.1183del (GLA)
NM_001199973.2:c.300+2566del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2566del
NM_001199974.2:c.177+6201del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6201del
NM_000169.3:c.1077del (GLA) MANE Select	NP_000160.1:p.Ile359MetfsTer?
NR_164783.1:n.1156del (GLA)