Canonical Allele Identifier: CA2448297459

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397910_101397911delinsAG , CM000685.2:g.101397910_101397911delinsAG	GRCh38
NC_000023.10:g.100652898_100652899delinsAG , CM000685.1:g.100652898_100652899delinsAG	GRCh37
NC_000023.9:g.100539554_100539555delinsAG	NCBI36
NG_007119.1:g.15053_15054delinsCT , LRG_672:g.15053_15054delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*691_*692delinsCT (GLA)	ENSP00000501044.2:n.*691_*692delinsCT
ENST00000710365.1:c.1263_1264delinsCT (GLA)	ENSP00000518234.1:p.Phe421=
ENST00000218516.4:c.1188_1189delinsCT (GLA) MANE Select	ENSP00000218516.4:p.Phe396=
ENST00000466414.2:n.1324_1325delinsCT (GLA)
ENST00000468823.2:n.2610_2611delinsCT (GLA)
ENST00000479445.2:n.1802_1803delinsCT (GLA)
ENST00000649178.1:c.1311_1312delinsCT (GLA)	ENSP00000498186.1:p.Phe437=
ENST00000674127.1:c.1288_1289delinsCT (GLA)	ENSP00000501044.1:n.1288_1289delinsCT
ENST00000674142.1:n.1421+71_1421+72delinsCT (GLA)
ENST00000675592.1:c.990_991delinsCT (GLA)	ENSP00000502239.1:p.Phe330=
ENST00000675799.1:c.*713_*714delinsCT (GLA)	ENSP00000502661.1:n.*713_*714delinsCT
ENST00000675968.1:n.4059_4060delinsCT (GLA)
ENST00000676156.1:c.1152_1153delinsCT (GLA)	ENSP00000501730.1:p.Phe384=
ENST00000676372.1:c.1254_1255delinsCT (GLA)	ENSP00000502805.1:n.1254_1255delinsCT
ENST00000218516.3:c.1188_1189delinsCT (GLA)	ENSP00000218516.3:p.Phe396=
ENST00000409170.3:c.300+2453_300+2454delinsAG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2453_300+2454delinsAG
ENST00000409338.5:c.177+6088_177+6089delinsAG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6088_177+6089delinsAG
ENST00000466414.1:n.514_515delinsCT (GLA)
ENST00000493905.6:c.*576_*577delinsCT (GLA)	ENSP00000476935.1:n.*576_*577delinsCT
NM_000169.2:c.1188_1189delinsCT , LRG_672t1:c.1188_1189delinsCT (GLA)	NP_000160.1:p.Phe396=
NM_001199973.1:c.408+2453_408+2454delinsAG (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2453_408+2454delinsAG
NM_001199974.1:c.285+6088_285+6089delinsAG (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6088_285+6089delinsAG
XR_938397.1:n.1273_1274delinsCT (GLA)
XR_938397.2:n.1294_1295delinsCT (GLA)
NM_001199973.2:c.300+2453_300+2454delinsAG (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2453_300+2454delinsAG
NM_001199974.2:c.177+6088_177+6089delinsAG (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6088_177+6089delinsAG
NM_000169.3:c.1188_1189delinsCT (GLA) MANE Select	NP_000160.1:p.Phe396=
NR_164783.1:n.1267_1268delinsCT (GLA)