Canonical Allele Identifier: CA2448298121

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398726_101398727delinsGT , CM000685.2:g.101398726_101398727delinsGT	GRCh38
NC_000023.10:g.100653714_100653715delinsGT , CM000685.1:g.100653714_100653715delinsGT	GRCh37
NC_000023.9:g.100540370_100540371delinsGT	NCBI36
NG_007119.1:g.14237_14238delinsAC , LRG_672:g.14237_14238delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*247+58_*247+59delinsAC (GLA)	ENSP00000501124.2:n.*247+58_*247+59delinsAC
ENST00000674127.2:c.*304+58_*304+59delinsAC (GLA)	ENSP00000501044.2:n.*304+58_*304+59delinsAC
ENST00000710365.1:c.876+58_876+59delinsAC (GLA)	ENSP00000518234.1:n.876+58_876+59delinsAC
ENST00000218516.4:c.801+58_801+59delinsAC (GLA) MANE Select	ENSP00000218516.4:n.801+58_801+59delinsAC
ENST00000466414.2:n.778_779delinsAC (GLA)
ENST00000468823.2:n.1794_1795delinsAC (GLA)
ENST00000479445.2:n.1256_1257delinsAC (GLA)
ENST00000480513.6:c.*109+58_*109+59delinsAC (GLA)	ENSP00000497055.1:n.*109+58_*109+59delinsAC
ENST00000486121.6:c.846+58_846+59delinsAC (GLA)
ENST00000649178.1:c.924+58_924+59delinsAC (GLA)	ENSP00000498186.1:n.924+58_924+59delinsAC
ENST00000674127.1:c.901+58_901+59delinsAC (GLA)	ENSP00000501044.1:n.901+58_901+59delinsAC
ENST00000674142.1:n.946_947delinsAC (GLA)
ENST00000674634.2:c.801+58_801+59delinsAC (GLA)	ENSP00000502629.2:n.801+58_801+59delinsAC
ENST00000675592.1:c.801+58_801+59delinsAC (GLA)	ENSP00000502239.1:n.801+58_801+59delinsAC
ENST00000675799.1:c.*167_*168delinsAC (GLA)	ENSP00000502661.1:n.*167_*168delinsAC
ENST00000675968.1:n.3513_3514delinsAC (GLA)
ENST00000676156.1:c.765+58_765+59delinsAC (GLA)	ENSP00000501730.1:n.765+58_765+59delinsAC
ENST00000676372.1:c.859_860delinsAC (GLA)	ENSP00000502805.1:n.859_860delinsAC
ENST00000218516.3:c.801+58_801+59delinsAC (GLA)	ENSP00000218516.3:n.801+58_801+59delinsAC
ENST00000409170.3:c.300+3269_300+3270delinsGT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3269_300+3270delinsGT
ENST00000409338.5:c.177+6904_177+6905delinsGT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6904_177+6905delinsGT
ENST00000468823.1:n.408_409delinsAC (GLA)
ENST00000493905.6:c.*189+58_*189+59delinsAC (GLA)	ENSP00000476935.1:n.*189+58_*189+59delinsAC
NM_000169.2:c.801+58_801+59delinsAC , LRG_672t1:c.801+58_801+59delinsAC (GLA)	NP_000160.1:n.801+58_801+59delinsAC
NM_001199973.1:c.408+3269_408+3270delinsGT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3269_408+3270delinsGT
NM_001199974.1:c.285+6904_285+6905delinsGT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6904_285+6905delinsGT
XR_938397.1:n.886+58_886+59delinsAC (GLA)
XR_938397.2:n.907+58_907+59delinsAC (GLA)
NM_001199973.2:c.300+3269_300+3270delinsGT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3269_300+3270delinsGT
NM_001199974.2:c.177+6904_177+6905delinsGT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6904_177+6905delinsGT
NM_000169.3:c.801+58_801+59delinsAC (GLA) MANE Select	NP_000160.1:n.801+58_801+59delinsAC
NR_164783.1:n.880+58_880+59delinsAC (GLA)