Canonical Allele Identifier: CA2448298080

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398595_101398597delinsCAA , CM000685.2:g.101398595_101398597delinsCAA	GRCh38
NC_000023.10:g.100653583_100653585delinsCAA , CM000685.1:g.100653583_100653585delinsCAA	GRCh37
NC_000023.9:g.100540239_100540241delinsCAA	NCBI36
NG_007119.1:g.14367_14369delinsTTG , LRG_672:g.14367_14369delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*248-30_*248-28delinsTTG (GLA)	ENSP00000501124.2:n.*248-30_*248-28delinsTTG
ENST00000674127.2:c.*305-30_*305-28delinsTTG (GLA)	ENSP00000501044.2:n.*305-30_*305-28delinsTTG
ENST00000710365.1:c.877-30_877-28delinsTTG (GLA)	ENSP00000518234.1:n.877-30_877-28delinsTTG
ENST00000218516.4:c.802-30_802-28delinsTTG (GLA) MANE Select	ENSP00000218516.4:n.802-30_802-28delinsTTG
ENST00000466414.2:n.908_910delinsTTG (GLA)
ENST00000468823.2:n.1924_1926delinsTTG (GLA)
ENST00000479445.2:n.1386_1388delinsTTG (GLA)
ENST00000480513.6:c.*110-30_*110-28delinsTTG (GLA)	ENSP00000497055.1:n.*110-30_*110-28delinsTTG
ENST00000486121.6:c.847-30_847-28delinsTTG (GLA)
ENST00000649178.1:c.925-30_925-28delinsTTG (GLA)	ENSP00000498186.1:n.925-30_925-28delinsTTG
ENST00000674127.1:c.902-30_902-28delinsTTG (GLA)	ENSP00000501044.1:n.902-30_902-28delinsTTG
ENST00000674142.1:n.1076_1078delinsTTG (GLA)
ENST00000674634.2:c.802-30_802-28delinsTTG (GLA)	ENSP00000502629.2:n.802-30_802-28delinsTTG
ENST00000675592.1:c.801+188_801+190delinsTTG (GLA)	ENSP00000502239.1:n.801+188_801+190delinsTTG
ENST00000675799.1:c.*297_*299delinsTTG (GLA)	ENSP00000502661.1:n.*297_*299delinsTTG
ENST00000675968.1:n.3643_3645delinsTTG (GLA)
ENST00000676156.1:c.766-30_766-28delinsTTG (GLA)	ENSP00000501730.1:n.766-30_766-28delinsTTG
ENST00000676372.1:c.868-30_868-28delinsTTG (GLA)	ENSP00000502805.1:n.868-30_868-28delinsTTG
ENST00000218516.3:c.802-30_802-28delinsTTG (GLA)	ENSP00000218516.3:n.802-30_802-28delinsTTG
ENST00000409170.3:c.300+3138_300+3140delinsCAA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3138_300+3140delinsCAA
ENST00000409338.5:c.177+6773_177+6775delinsCAA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6773_177+6775delinsCAA
ENST00000466414.1:n.98_100delinsTTG (GLA)
ENST00000468823.1:n.538_540delinsTTG (GLA)
ENST00000493905.6:c.*190-30_*190-28delinsTTG (GLA)	ENSP00000476935.1:n.*190-30_*190-28delinsTTG
NM_000169.2:c.802-30_802-28delinsTTG , LRG_672t1:c.802-30_802-28delinsTTG (GLA)	NP_000160.1:n.802-30_802-28delinsTTG
NM_001199973.1:c.408+3138_408+3140delinsCAA (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3138_408+3140delinsCAA
NM_001199974.1:c.285+6773_285+6775delinsCAA (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6773_285+6775delinsCAA
XR_938397.1:n.887-30_887-28delinsTTG (GLA)
XR_938397.2:n.908-30_908-28delinsTTG (GLA)
NM_001199973.2:c.300+3138_300+3140delinsCAA (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3138_300+3140delinsCAA
NM_001199974.2:c.177+6773_177+6775delinsCAA (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6773_177+6775delinsCAA
NM_000169.3:c.802-30_802-28delinsTTG (GLA) MANE Select	NP_000160.1:n.802-30_802-28delinsTTG
NR_164783.1:n.881-30_881-28delinsTTG (GLA)