Canonical Allele Identifier: CA2527860791

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398181_101398184del , CM000685.2:g.101398181_101398184del	GRCh38
NC_000023.10:g.100653169_100653172del , CM000685.1:g.100653169_100653172del	GRCh37
NC_000023.9:g.100539825_100539828del	NCBI36
NG_007119.1:g.14781_14784del , LRG_672:g.14781_14784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-84_*446-81del (GLA)	ENSP00000501124.2:n.*446-84_*446-81del
ENST00000674127.2:c.*503-84_*503-81del (GLA)	ENSP00000501044.2:n.*503-84_*503-81del
ENST00000710365.1:c.1075-84_1075-81del (GLA)	ENSP00000518234.1:n.1075-84_1075-81del
ENST00000218516.4:c.1000-84_1000-81del (GLA) MANE Select	ENSP00000218516.4:n.1000-84_1000-81del
ENST00000466414.2:n.1136-84_1136-81del (GLA)
ENST00000468823.2:n.2338_2341del (GLA)
ENST00000479445.2:n.1614-84_1614-81del (GLA)
ENST00000480513.6:c.*308-84_*308-81del (GLA)	ENSP00000497055.1:n.*308-84_*308-81del
ENST00000486121.6:c.1045-84_1045-81del (GLA)
ENST00000649178.1:c.1123-84_1123-81del (GLA)	ENSP00000498186.1:n.1123-84_1123-81del
ENST00000674127.1:c.1100-84_1100-81del (GLA)	ENSP00000501044.1:n.1100-84_1100-81del
ENST00000674142.1:n.1304-84_1304-81del (GLA)
ENST00000675592.1:c.802-84_802-81del (GLA)	ENSP00000502239.1:n.802-84_802-81del
ENST00000675799.1:c.*525-84_*525-81del (GLA)	ENSP00000502661.1:n.*525-84_*525-81del
ENST00000675968.1:n.3871-84_3871-81del (GLA)
ENST00000676156.1:c.964-84_964-81del (GLA)	ENSP00000501730.1:n.964-84_964-81del
ENST00000676372.1:c.1066-84_1066-81del (GLA)	ENSP00000502805.1:n.1066-84_1066-81del
ENST00000218516.3:c.1000-84_1000-81del (GLA)	ENSP00000218516.3:n.1000-84_1000-81del
ENST00000409170.3:c.300+2724_300+2727del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2724_300+2727del
ENST00000409338.5:c.177+6359_177+6362del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6359_177+6362del
ENST00000466414.1:n.326-84_326-81del (GLA)
ENST00000493905.6:c.*388-84_*388-81del (GLA)	ENSP00000476935.1:n.*388-84_*388-81del
NM_000169.2:c.1000-84_1000-81del , LRG_672t1:c.1000-84_1000-81del (GLA)	NP_000160.1:n.1000-84_1000-81del
NM_001199973.1:c.408+2724_408+2727del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2724_408+2727del
NM_001199974.1:c.285+6359_285+6362del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6359_285+6362del
XR_938397.1:n.1085-84_1085-81del (GLA)
XR_938397.2:n.1106-84_1106-81del (GLA)
NM_001199973.2:c.300+2724_300+2727del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2724_300+2727del
NM_001199974.2:c.177+6359_177+6362del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6359_177+6362del
NM_000169.3:c.1000-84_1000-81del (GLA) MANE Select	NP_000160.1:n.1000-84_1000-81del
NR_164783.1:n.1079-84_1079-81del (GLA)