Canonical Allele Identifier: CA2579664646

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101398728-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398731_101398732del , CM000685.2:g.101398731_101398732del	GRCh38
NC_000023.10:g.100653719_100653720del , CM000685.1:g.100653719_100653720del	GRCh37
NC_000023.9:g.100540375_100540376del	NCBI36
NG_007119.1:g.14234_14235del , LRG_672:g.14234_14235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*247+55_*247+56del (GLA)	ENSP00000501124.2:n.*247+55_*247+56del
ENST00000674127.2:c.*304+55_*304+56del (GLA)	ENSP00000501044.2:n.*304+55_*304+56del
ENST00000710365.1:c.876+55_876+56del (GLA)	ENSP00000518234.1:n.876+55_876+56del
ENST00000218516.4:c.801+55_801+56del (GLA) MANE Select	ENSP00000218516.4:n.801+55_801+56del
ENST00000466414.2:n.775_776del (GLA)
ENST00000468823.2:n.1791_1792del (GLA)
ENST00000479445.2:n.1253_1254del (GLA)
ENST00000480513.6:c.*109+55_*109+56del (GLA)	ENSP00000497055.1:n.*109+55_*109+56del
ENST00000486121.6:c.846+55_846+56del (GLA)
ENST00000649178.1:c.924+55_924+56del (GLA)	ENSP00000498186.1:n.924+55_924+56del
ENST00000674127.1:c.901+55_901+56del (GLA)	ENSP00000501044.1:n.901+55_901+56del
ENST00000674142.1:n.943_944del (GLA)
ENST00000674634.2:c.801+55_801+56del (GLA)	ENSP00000502629.2:n.801+55_801+56del
ENST00000675592.1:c.801+55_801+56del (GLA)	ENSP00000502239.1:n.801+55_801+56del
ENST00000675799.1:c.*164_*165del (GLA)	ENSP00000502661.1:n.*164_*165del
ENST00000675968.1:n.3510_3511del (GLA)
ENST00000676156.1:c.765+55_765+56del (GLA)	ENSP00000501730.1:n.765+55_765+56del
ENST00000676372.1:c.856_857del (GLA)	ENSP00000502805.1:n.856_857del
ENST00000218516.3:c.801+55_801+56del (GLA)	ENSP00000218516.3:n.801+55_801+56del
ENST00000409170.3:c.300+3274_300+3275del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3274_300+3275del
ENST00000409338.5:c.177+6909_177+6910del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6909_177+6910del
ENST00000468823.1:n.405_406del (GLA)
ENST00000493905.6:c.*189+55_*189+56del (GLA)	ENSP00000476935.1:n.*189+55_*189+56del
NM_000169.2:c.801+55_801+56del , LRG_672t1:c.801+55_801+56del (GLA)	NP_000160.1:n.801+55_801+56del
NM_001199973.1:c.408+3274_408+3275del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3274_408+3275del
NM_001199974.1:c.285+6909_285+6910del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6909_285+6910del
XR_938397.1:n.886+55_886+56del (GLA)
XR_938397.2:n.907+55_907+56del (GLA)
NM_001199973.2:c.300+3274_300+3275del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3274_300+3275del
NM_001199974.2:c.177+6909_177+6910del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6909_177+6910del
NM_000169.3:c.801+55_801+56del (GLA) MANE Select	NP_000160.1:n.801+55_801+56del
NR_164783.1:n.880+55_880+56del (GLA)