Canonical Allele Identifier: CA1135845542

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1928148389
• gnomAD v3: X-101398166-ATTCT-A
• gnomAD v4: X-101398166-ATTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398168_101398171del , CM000685.2:g.101398168_101398171del	GRCh38
NC_000023.10:g.100653156_100653159del , CM000685.1:g.100653156_100653159del	GRCh37
NC_000023.9:g.100539812_100539815del	NCBI36
NG_007119.1:g.14794_14797del , LRG_672:g.14794_14797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-71_*446-68del (GLA)	ENSP00000501124.2:n.*446-71_*446-68del
ENST00000674127.2:c.*503-71_*503-68del (GLA)	ENSP00000501044.2:n.*503-71_*503-68del
ENST00000710365.1:c.1075-71_1075-68del (GLA)	ENSP00000518234.1:n.1075-71_1075-68del
ENST00000218516.4:c.1000-71_1000-68del (GLA) MANE Select	ENSP00000218516.4:n.1000-71_1000-68del
ENST00000466414.2:n.1136-71_1136-68del (GLA)
ENST00000468823.2:n.2351_2354del (GLA)
ENST00000479445.2:n.1614-71_1614-68del (GLA)
ENST00000480513.6:c.*308-71_*308-68del (GLA)	ENSP00000497055.1:n.*308-71_*308-68del
ENST00000486121.6:c.1045-71_1045-68del (GLA)
ENST00000649178.1:c.1123-71_1123-68del (GLA)	ENSP00000498186.1:n.1123-71_1123-68del
ENST00000674127.1:c.1100-71_1100-68del (GLA)	ENSP00000501044.1:n.1100-71_1100-68del
ENST00000674142.1:n.1304-71_1304-68del (GLA)
ENST00000675592.1:c.802-71_802-68del (GLA)	ENSP00000502239.1:n.802-71_802-68del
ENST00000675799.1:c.*525-71_*525-68del (GLA)	ENSP00000502661.1:n.*525-71_*525-68del
ENST00000675968.1:n.3871-71_3871-68del (GLA)
ENST00000676156.1:c.964-71_964-68del (GLA)	ENSP00000501730.1:n.964-71_964-68del
ENST00000676372.1:c.1066-71_1066-68del (GLA)	ENSP00000502805.1:n.1066-71_1066-68del
ENST00000218516.3:c.1000-71_1000-68del (GLA)	ENSP00000218516.3:n.1000-71_1000-68del
ENST00000409170.3:c.300+2711_300+2714del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2711_300+2714del
ENST00000409338.5:c.177+6346_177+6349del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6346_177+6349del
ENST00000466414.1:n.326-71_326-68del (GLA)
ENST00000493905.6:c.*388-71_*388-68del (GLA)	ENSP00000476935.1:n.*388-71_*388-68del
NM_000169.2:c.1000-71_1000-68del , LRG_672t1:c.1000-71_1000-68del (GLA)	NP_000160.1:n.1000-71_1000-68del
NM_001199973.1:c.408+2711_408+2714del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2711_408+2714del
NM_001199974.1:c.285+6346_285+6349del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6346_285+6349del
XR_938397.1:n.1085-71_1085-68del (GLA)
XR_938397.2:n.1106-71_1106-68del (GLA)
NM_001199973.2:c.300+2711_300+2714del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2711_300+2714del
NM_001199974.2:c.177+6346_177+6349del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6346_177+6349del
NM_000169.3:c.1000-71_1000-68del (GLA) MANE Select	NP_000160.1:n.1000-71_1000-68del
NR_164783.1:n.1079-71_1079-68del (GLA)