Canonical Allele Identifier: CA2448297941

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1928154108
• gnomAD v4: X-101398348-TAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398350_101398352del , CM000685.2:g.101398350_101398352del	GRCh38
NC_000023.10:g.100653338_100653340del , CM000685.1:g.100653338_100653340del	GRCh37
NC_000023.9:g.100539994_100539996del	NCBI36
NG_007119.1:g.14613_14615del , LRG_672:g.14613_14615del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*445+19_*445+21del (GLA)	ENSP00000501124.2:n.*445+19_*445+21del
ENST00000674127.2:c.*502+19_*502+21del (GLA)	ENSP00000501044.2:n.*502+19_*502+21del
ENST00000710365.1:c.1074+19_1074+21del (GLA)	ENSP00000518234.1:n.1074+19_1074+21del
ENST00000218516.4:c.999+19_999+21del (GLA) MANE Select	ENSP00000218516.4:n.999+19_999+21del
ENST00000466414.2:n.1135+19_1135+21del (GLA)
ENST00000468823.2:n.2170_2172del (GLA)
ENST00000479445.2:n.1613+19_1613+21del (GLA)
ENST00000480513.6:c.*307+19_*307+21del (GLA)	ENSP00000497055.1:n.*307+19_*307+21del
ENST00000486121.6:c.1044+19_1044+21del (GLA)
ENST00000649178.1:c.1122+19_1122+21del (GLA)	ENSP00000498186.1:n.1122+19_1122+21del
ENST00000674127.1:c.1099+19_1099+21del (GLA)	ENSP00000501044.1:n.1099+19_1099+21del
ENST00000674142.1:n.1303+19_1303+21del (GLA)
ENST00000674634.2:c.1018_1020del (GLA)	ENSP00000502629.2:p.Phe340del
ENST00000675592.1:c.802-252_802-250del (GLA)	ENSP00000502239.1:n.802-252_802-250del
ENST00000675799.1:c.*524+19_*524+21del (GLA)	ENSP00000502661.1:n.*524+19_*524+21del
ENST00000675968.1:n.3870+19_3870+21del (GLA)
ENST00000676156.1:c.963+19_963+21del (GLA)	ENSP00000501730.1:n.963+19_963+21del
ENST00000676372.1:c.1065+19_1065+21del (GLA)	ENSP00000502805.1:n.1065+19_1065+21del
ENST00000218516.3:c.999+19_999+21del (GLA)	ENSP00000218516.3:n.999+19_999+21del
ENST00000409170.3:c.300+2893_300+2895del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2893_300+2895del
ENST00000409338.5:c.177+6528_177+6530del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6528_177+6530del
ENST00000466414.1:n.325+19_325+21del (GLA)
ENST00000493905.6:c.*387+19_*387+21del (GLA)	ENSP00000476935.1:n.*387+19_*387+21del
NM_000169.2:c.999+19_999+21del , LRG_672t1:c.999+19_999+21del (GLA)	NP_000160.1:n.999+19_999+21del
NM_001199973.1:c.408+2893_408+2895del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2893_408+2895del
NM_001199974.1:c.285+6528_285+6530del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6528_285+6530del
XR_938397.1:n.1084+19_1084+21del (GLA)
XR_938397.2:n.1105+19_1105+21del (GLA)
NM_001199973.2:c.300+2893_300+2895del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2893_300+2895del
NM_001199974.2:c.177+6528_177+6530del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6528_177+6530del
NM_000169.3:c.999+19_999+21del (GLA) MANE Select	NP_000160.1:n.999+19_999+21del
NR_164783.1:n.1078+19_1078+21del (GLA)