Canonical Allele Identifier: CA029389

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs782414086
• ExAC: X:100653136 CCT / C
• gnomAD v2: X-100653136-CCT-C
• gnomAD v3: X-101398148-CCT-C
• gnomAD v4: X-101398148-CCT-C
• MyVariant Identifiers: chrX:g.100653137_100653138del (hg19) ; chrX:g.101398149_101398150del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398149_101398150del , CM000685.2:g.101398149_101398150del	GRCh38
NC_000023.10:g.100653137_100653138del , CM000685.1:g.100653137_100653138del	GRCh37
NC_000023.9:g.100539793_100539794del	NCBI36
NG_007119.1:g.14814_14815del , LRG_672:g.14814_14815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-51_*446-50del (GLA)	ENSP00000501124.2:n.*446-51_*446-50del
ENST00000674127.2:c.*503-51_*503-50del (GLA)	ENSP00000501044.2:n.*503-51_*503-50del
ENST00000710365.1:c.1075-51_1075-50del (GLA)	ENSP00000518234.1:n.1075-51_1075-50del
ENST00000218516.4:c.1000-51_1000-50del (GLA) MANE Select	ENSP00000218516.4:n.1000-51_1000-50del
ENST00000466414.2:n.1136-51_1136-50del (GLA)
ENST00000468823.2:n.2371_2372del (GLA)
ENST00000479445.2:n.1614-51_1614-50del (GLA)
ENST00000480513.6:c.*308-51_*308-50del (GLA)	ENSP00000497055.1:n.*308-51_*308-50del
ENST00000486121.6:c.1045-51_1045-50del (GLA)
ENST00000649178.1:c.1123-51_1123-50del (GLA)	ENSP00000498186.1:n.1123-51_1123-50del
ENST00000674127.1:c.1100-51_1100-50del (GLA)	ENSP00000501044.1:n.1100-51_1100-50del
ENST00000674142.1:n.1304-51_1304-50del (GLA)
ENST00000675592.1:c.802-51_802-50del (GLA)	ENSP00000502239.1:n.802-51_802-50del
ENST00000675799.1:c.*525-51_*525-50del (GLA)	ENSP00000502661.1:n.*525-51_*525-50del
ENST00000675968.1:n.3871-51_3871-50del (GLA)
ENST00000676156.1:c.964-51_964-50del (GLA)	ENSP00000501730.1:n.964-51_964-50del
ENST00000676372.1:c.1066-51_1066-50del (GLA)	ENSP00000502805.1:n.1066-51_1066-50del
ENST00000218516.3:c.1000-51_1000-50del (GLA)	ENSP00000218516.3:n.1000-51_1000-50del
ENST00000409170.3:c.300+2692_300+2693del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2692_300+2693del
ENST00000409338.5:c.177+6327_177+6328del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6327_177+6328del
ENST00000466414.1:n.326-51_326-50del (GLA)
ENST00000493905.6:c.*388-51_*388-50del (GLA)	ENSP00000476935.1:n.*388-51_*388-50del
NM_000169.2:c.1000-51_1000-50del , LRG_672t1:c.1000-51_1000-50del (GLA)	NP_000160.1:n.1000-51_1000-50del
NM_001199973.1:c.408+2692_408+2693del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2692_408+2693del
NM_001199974.1:c.285+6327_285+6328del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6327_285+6328del
XR_938397.1:n.1085-51_1085-50del (GLA)
XR_938397.2:n.1106-51_1106-50del (GLA)
NM_001199973.2:c.300+2692_300+2693del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2692_300+2693del
NM_001199974.2:c.177+6327_177+6328del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6327_177+6328del
NM_000169.3:c.1000-51_1000-50del (GLA) MANE Select	NP_000160.1:n.1000-51_1000-50del
NR_164783.1:n.1079-51_1079-50del (GLA)