Canonical Allele Identifier: CA2448297590

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397976_101397977delinsCT , CM000685.2:g.101397976_101397977delinsCT	GRCh38
NC_000023.10:g.100652964_100652965delinsCT , CM000685.1:g.100652964_100652965delinsCT	GRCh37
NC_000023.9:g.100539620_100539621delinsCT	NCBI36
NG_007119.1:g.14987_14988delinsAG , LRG_672:g.14987_14988delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*568_*569delinsAG (GLA)	ENSP00000501124.2:n.*568_*569delinsAG
ENST00000674127.2:c.*625_*626delinsAG (GLA)	ENSP00000501044.2:n.*625_*626delinsAG
ENST00000710365.1:c.1197_1198delinsAG (GLA)	ENSP00000518234.1:p.Lys399=
ENST00000218516.4:c.1122_1123delinsAG (GLA) MANE Select	ENSP00000218516.4:p.Lys374=
ENST00000466414.2:n.1258_1259delinsAG (GLA)
ENST00000468823.2:n.2544_2545delinsAG (GLA)
ENST00000479445.2:n.1736_1737delinsAG (GLA)
ENST00000480513.6:c.*430_*431delinsAG (GLA)	ENSP00000497055.1:n.*430_*431delinsAG
ENST00000486121.6:c.1167_1168delinsAG (GLA)
ENST00000649178.1:c.1245_1246delinsAG (GLA)	ENSP00000498186.1:p.Lys415=
ENST00000674127.1:c.1222_1223delinsAG (GLA)	ENSP00000501044.1:n.1222_1223delinsAG
ENST00000674142.1:n.1421+5_1421+6delinsAG (GLA)
ENST00000675592.1:c.924_925delinsAG (GLA)	ENSP00000502239.1:p.Lys308=
ENST00000675799.1:c.*647_*648delinsAG (GLA)	ENSP00000502661.1:n.*647_*648delinsAG
ENST00000675968.1:n.3993_3994delinsAG (GLA)
ENST00000676156.1:c.1086_1087delinsAG (GLA)	ENSP00000501730.1:p.Lys362=
ENST00000676372.1:c.1188_1189delinsAG (GLA)	ENSP00000502805.1:n.1188_1189delinsAG
ENST00000218516.3:c.1122_1123delinsAG (GLA)	ENSP00000218516.3:p.Lys374=
ENST00000409170.3:c.300+2519_300+2520delinsCT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2519_300+2520delinsCT
ENST00000409338.5:c.177+6154_177+6155delinsCT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6154_177+6155delinsCT
ENST00000466414.1:n.448_449delinsAG (GLA)
ENST00000493905.6:c.*510_*511delinsAG (GLA)	ENSP00000476935.1:n.*510_*511delinsAG
NM_000169.2:c.1122_1123delinsAG , LRG_672t1:c.1122_1123delinsAG (GLA)	NP_000160.1:p.Lys374=
NM_001199973.1:c.408+2519_408+2520delinsCT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2519_408+2520delinsCT
NM_001199974.1:c.285+6154_285+6155delinsCT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6154_285+6155delinsCT
XR_938397.1:n.1207_1208delinsAG (GLA)
XR_938397.2:n.1228_1229delinsAG (GLA)
NM_001199973.2:c.300+2519_300+2520delinsCT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2519_300+2520delinsCT
NM_001199974.2:c.177+6154_177+6155delinsCT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6154_177+6155delinsCT
NM_000169.3:c.1122_1123delinsAG (GLA) MANE Select	NP_000160.1:p.Lys374=
NR_164783.1:n.1201_1202delinsAG (GLA)