Canonical Allele Identifier: CA352536

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312207
• MyVariant Identifiers: chrX:g.100653138_100653141del (hg19) ; chrX:g.101398150_101398153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398150_101398153del , CM000685.2:g.101398150_101398153del	GRCh38
NC_000023.10:g.100653138_100653141del , CM000685.1:g.100653138_100653141del	GRCh37
NC_000023.9:g.100539794_100539797del	NCBI36
NG_007119.1:g.14811_14814del , LRG_672:g.14811_14814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-54_*446-51del (GLA)	ENSP00000501124.2:n.*446-54_*446-51del
ENST00000674127.2:c.*503-54_*503-51del (GLA)	ENSP00000501044.2:n.*503-54_*503-51del
ENST00000710365.1:c.1075-54_1075-51del (GLA)	ENSP00000518234.1:n.1075-54_1075-51del
ENST00000218516.4:c.1000-54_1000-51del (GLA) MANE Select	ENSP00000218516.4:n.1000-54_1000-51del
ENST00000466414.2:n.1136-54_1136-51del (GLA)
ENST00000468823.2:n.2368_2371del (GLA)
ENST00000479445.2:n.1614-54_1614-51del (GLA)
ENST00000480513.6:c.*308-54_*308-51del (GLA)	ENSP00000497055.1:n.*308-54_*308-51del
ENST00000486121.6:c.1045-54_1045-51del (GLA)
ENST00000649178.1:c.1123-54_1123-51del (GLA)	ENSP00000498186.1:n.1123-54_1123-51del
ENST00000674127.1:c.1100-54_1100-51del (GLA)	ENSP00000501044.1:n.1100-54_1100-51del
ENST00000674142.1:n.1304-54_1304-51del (GLA)
ENST00000675592.1:c.802-54_802-51del (GLA)	ENSP00000502239.1:n.802-54_802-51del
ENST00000675799.1:c.*525-54_*525-51del (GLA)	ENSP00000502661.1:n.*525-54_*525-51del
ENST00000675968.1:n.3871-54_3871-51del (GLA)
ENST00000676156.1:c.964-54_964-51del (GLA)	ENSP00000501730.1:n.964-54_964-51del
ENST00000676372.1:c.1066-54_1066-51del (GLA)	ENSP00000502805.1:n.1066-54_1066-51del
ENST00000218516.3:c.1000-54_1000-51del (GLA)	ENSP00000218516.3:n.1000-54_1000-51del
ENST00000409170.3:c.300+2693_300+2696del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2693_300+2696del
ENST00000409338.5:c.177+6328_177+6331del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6328_177+6331del
ENST00000466414.1:n.326-54_326-51del (GLA)
ENST00000493905.6:c.*388-54_*388-51del (GLA)	ENSP00000476935.1:n.*388-54_*388-51del
NM_000169.2:c.1000-54_1000-51del , LRG_672t1:c.1000-54_1000-51del (GLA)	NP_000160.1:n.1000-54_1000-51del
NM_001199973.1:c.408+2693_408+2696del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2693_408+2696del
NM_001199974.1:c.285+6328_285+6331del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6328_285+6331del
XR_938397.1:n.1085-54_1085-51del (GLA)
XR_938397.2:n.1106-54_1106-51del (GLA)
NM_001199973.2:c.300+2693_300+2696del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2693_300+2696del
NM_001199974.2:c.177+6328_177+6331del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6328_177+6331del
NM_000169.3:c.1000-54_1000-51del (GLA) MANE Select	NP_000160.1:n.1000-54_1000-51del
NR_164783.1:n.1079-54_1079-51del (GLA)