Canonical Allele Identifier: CA2695234924

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398808_101398814del , CM000685.2:g.101398808_101398814del	GRCh38
NC_000023.10:g.100653796_100653802del , CM000685.1:g.100653796_100653802del	GRCh37
NC_000023.9:g.100540452_100540458del	NCBI36
NG_007119.1:g.14152_14158del , LRG_672:g.14152_14158del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*220_*226del (GLA)	ENSP00000501124.2:n.*220_*226del
ENST00000674127.2:c.*277_*283del (GLA)	ENSP00000501044.2:n.*277_*283del
ENST00000710365.1:c.849_855del (GLA)	ENSP00000518234.1:p.Pro284ValfsTer8
ENST00000218516.4:c.774_780del (GLA) MANE Select	ENSP00000218516.4:p.Pro259ValfsTer8
ENST00000466414.2:n.693_699del (GLA)
ENST00000468823.2:n.1709_1715del (GLA)
ENST00000479445.2:n.1171_1177del (GLA)
ENST00000480513.6:c.*82_*88del (GLA)	ENSP00000497055.1:n.*82_*88del
ENST00000486121.6:c.819_825del (GLA)
ENST00000649178.1:c.897_903del (GLA)	ENSP00000498186.1:p.Pro300ValfsTer8
ENST00000674127.1:c.874_880del (GLA)	ENSP00000501044.1:n.874_880del
ENST00000674142.1:n.861_867del (GLA)
ENST00000674634.2:c.774_780del (GLA)	ENSP00000502629.2:p.Pro259ValfsTer8
ENST00000675592.1:c.774_780del (GLA)	ENSP00000502239.1:p.Pro259ValfsTer21
ENST00000675799.1:c.*82_*88del (GLA)	ENSP00000502661.1:n.*82_*88del
ENST00000675968.1:n.3428_3434del (GLA)
ENST00000676156.1:c.738_744del (GLA)	ENSP00000501730.1:p.Pro247ValfsTer8
ENST00000676372.1:c.774_780del (GLA)	ENSP00000502805.1:p.Pro259ValfsTer8
ENST00000218516.3:c.774_780del (GLA)	ENSP00000218516.3:p.Pro259ValfsTer8
ENST00000409170.3:c.300+3351_300+3357del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3351_300+3357del
ENST00000409338.5:c.177+6986_177+6992del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6986_177+6992del
ENST00000468823.1:n.323_329del (GLA)
ENST00000493905.6:c.*162_*168del (GLA)	ENSP00000476935.1:n.*162_*168del
NM_000169.2:c.774_780del , LRG_672t1:c.774_780del (GLA)	NP_000160.1:p.Pro259ValfsTer8
NM_001199973.1:c.408+3351_408+3357del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3351_408+3357del
NM_001199974.1:c.285+6986_285+6992del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6986_285+6992del
XR_938397.1:n.859_865del (GLA)
XR_938397.2:n.880_886del (GLA)
NM_001199973.2:c.300+3351_300+3357del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3351_300+3357del
NM_001199974.2:c.177+6986_177+6992del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6986_177+6992del
NM_000169.3:c.774_780del (GLA) MANE Select	NP_000160.1:p.Pro259ValfsTer8
NR_164783.1:n.853_859del (GLA)