Canonical Allele Identifier: CA2448297575

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397969_101397975delinsGCCACTC , CM000685.2:g.101397969_101397975delinsGCCACTC	GRCh38
NC_000023.10:g.100652957_100652963delinsGCCACTC , CM000685.1:g.100652957_100652963delinsGCCACTC	GRCh37
NC_000023.9:g.100539613_100539619delinsGCCACTC	NCBI36
NG_007119.1:g.14989_14995delinsGAGTGGC , LRG_672:g.14989_14995delinsGAGTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*570_*576delinsGAGTGGC (GLA)	ENSP00000501124.2:n.*570_*576delinsGAGTGGC
ENST00000674127.2:c.*627_*633delinsGAGTGGC (GLA)	ENSP00000501044.2:n.*627_*633delinsGAGTGGC
ENST00000710365.1:c.1199_1205delinsGAGTGGC (GLA)	ENSP00000518234.1:p.Gly400=
ENST00000218516.4:c.1124_1130delinsGAGTGGC (GLA) MANE Select	ENSP00000218516.4:p.Gly375=
ENST00000466414.2:n.1260_1266delinsGAGTGGC (GLA)
ENST00000468823.2:n.2546_2552delinsGAGTGGC (GLA)
ENST00000479445.2:n.1738_1744delinsGAGTGGC (GLA)
ENST00000480513.6:c.*432_*438delinsGAGTGGC (GLA)	ENSP00000497055.1:n.*432_*438delinsGAGTGGC
ENST00000486121.6:c.1169_1175delinsGAGTGGC (GLA)
ENST00000649178.1:c.1247_1253delinsGAGTGGC (GLA)	ENSP00000498186.1:p.Gly416=
ENST00000674127.1:c.1224_1230delinsGAGTGGC (GLA)	ENSP00000501044.1:n.1224_1230delinsGAGTGGC
ENST00000674142.1:n.1421+7_1421+13delinsGAGTGGC (GLA)
ENST00000675592.1:c.926_932delinsGAGTGGC (GLA)	ENSP00000502239.1:p.Gly309=
ENST00000675799.1:c.*649_*655delinsGAGTGGC (GLA)	ENSP00000502661.1:n.*649_*655delinsGAGTGGC
ENST00000675968.1:n.3995_4001delinsGAGTGGC (GLA)
ENST00000676156.1:c.1088_1094delinsGAGTGGC (GLA)	ENSP00000501730.1:p.Gly363=
ENST00000676372.1:c.1190_1196delinsGAGTGGC (GLA)	ENSP00000502805.1:n.1190_1196delinsGAGTGGC
ENST00000218516.3:c.1124_1130delinsGAGTGGC (GLA)	ENSP00000218516.3:p.Gly375=
ENST00000409170.3:c.300+2512_300+2518delinsGCCACTC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2512_300+2518delinsGCCACTC
ENST00000409338.5:c.177+6147_177+6153delinsGCCACTC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6147_177+6153delinsGCCACTC
ENST00000466414.1:n.450_456delinsGAGTGGC (GLA)
ENST00000493905.6:c.*512_*518delinsGAGTGGC (GLA)	ENSP00000476935.1:n.*512_*518delinsGAGTGGC
NM_000169.2:c.1124_1130delinsGAGTGGC , LRG_672t1:c.1124_1130delinsGAGTGGC (GLA)	NP_000160.1:p.Gly375=
NM_001199973.1:c.408+2512_408+2518delinsGCCACTC (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2512_408+2518delinsGCCACTC
NM_001199974.1:c.285+6147_285+6153delinsGCCACTC (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6147_285+6153delinsGCCACTC
XR_938397.1:n.1209_1215delinsGAGTGGC (GLA)
XR_938397.2:n.1230_1236delinsGAGTGGC (GLA)
NM_001199973.2:c.300+2512_300+2518delinsGCCACTC (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2512_300+2518delinsGCCACTC
NM_001199974.2:c.177+6147_177+6153delinsGCCACTC (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6147_177+6153delinsGCCACTC
NM_000169.3:c.1124_1130delinsGAGTGGC (GLA) MANE Select	NP_000160.1:p.Gly375=
NR_164783.1:n.1203_1209delinsGAGTGGC (GLA)