Canonical Allele Identifier: CA2448297866

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398115_101398117delinsAGT , CM000685.2:g.101398115_101398117delinsAGT	GRCh38
NC_000023.10:g.100653103_100653105delinsAGT , CM000685.1:g.100653103_100653105delinsAGT	GRCh37
NC_000023.9:g.100539759_100539761delinsAGT	NCBI36
NG_007119.1:g.14847_14849delinsACT , LRG_672:g.14847_14849delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-18_*446-16delinsACT (GLA)	ENSP00000501124.2:n.*446-18_*446-16delinsACT
ENST00000674127.2:c.*503-18_*503-16delinsACT (GLA)	ENSP00000501044.2:n.*503-18_*503-16delinsACT
ENST00000710365.1:c.1075-18_1075-16delinsACT (GLA)	ENSP00000518234.1:n.1075-18_1075-16delinsACT
ENST00000218516.4:c.1000-18_1000-16delinsACT (GLA) MANE Select	ENSP00000218516.4:n.1000-18_1000-16delinsACT
ENST00000466414.2:n.1136-18_1136-16delinsACT (GLA)
ENST00000468823.2:n.2404_2406delinsACT (GLA)
ENST00000479445.2:n.1614-18_1614-16delinsACT (GLA)
ENST00000480513.6:c.*308-18_*308-16delinsACT (GLA)	ENSP00000497055.1:n.*308-18_*308-16delinsACT
ENST00000486121.6:c.1045-18_1045-16delinsACT (GLA)
ENST00000649178.1:c.1123-18_1123-16delinsACT (GLA)	ENSP00000498186.1:n.1123-18_1123-16delinsACT
ENST00000674127.1:c.1100-18_1100-16delinsACT (GLA)	ENSP00000501044.1:n.1100-18_1100-16delinsACT
ENST00000674142.1:n.1304-18_1304-16delinsACT (GLA)
ENST00000675592.1:c.802-18_802-16delinsACT (GLA)	ENSP00000502239.1:n.802-18_802-16delinsACT
ENST00000675799.1:c.*525-18_*525-16delinsACT (GLA)	ENSP00000502661.1:n.*525-18_*525-16delinsACT
ENST00000675968.1:n.3871-18_3871-16delinsACT (GLA)
ENST00000676156.1:c.964-18_964-16delinsACT (GLA)	ENSP00000501730.1:n.964-18_964-16delinsACT
ENST00000676372.1:c.1066-18_1066-16delinsACT (GLA)	ENSP00000502805.1:n.1066-18_1066-16delinsACT
ENST00000218516.3:c.1000-18_1000-16delinsACT (GLA)	ENSP00000218516.3:n.1000-18_1000-16delinsACT
ENST00000409170.3:c.300+2658_300+2660delinsAGT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2658_300+2660delinsAGT
ENST00000409338.5:c.177+6293_177+6295delinsAGT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6293_177+6295delinsAGT
ENST00000466414.1:n.326-18_326-16delinsACT (GLA)
ENST00000493905.6:c.*388-18_*388-16delinsACT (GLA)	ENSP00000476935.1:n.*388-18_*388-16delinsACT
NM_000169.2:c.1000-18_1000-16delinsACT , LRG_672t1:c.1000-18_1000-16delinsACT (GLA)	NP_000160.1:n.1000-18_1000-16delinsACT
NM_001199973.1:c.408+2658_408+2660delinsAGT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2658_408+2660delinsAGT
NM_001199974.1:c.285+6293_285+6295delinsAGT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6293_285+6295delinsAGT
XR_938397.1:n.1085-18_1085-16delinsACT (GLA)
XR_938397.2:n.1106-18_1106-16delinsACT (GLA)
NM_001199973.2:c.300+2658_300+2660delinsAGT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2658_300+2660delinsAGT
NM_001199974.2:c.177+6293_177+6295delinsAGT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6293_177+6295delinsAGT
NM_000169.3:c.1000-18_1000-16delinsACT (GLA) MANE Select	NP_000160.1:n.1000-18_1000-16delinsACT
NR_164783.1:n.1079-18_1079-16delinsACT (GLA)