Canonical Allele Identifier: CA029411

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs202039070
• ExAC: X:100653138 TGTTA / T
• gnomAD v2: X-100653138-TGTTA-T
• gnomAD v3: X-101398150-TGTTA-T
• gnomAD v4: X-101398150-TGTTA-T
• MyVariant Identifiers: chrX:g.100653139_100653142del (hg19) ; chrX:g.101398152_101398155del (hg38) ; chrX:g.101398151_101398154del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398154_101398157del , CM000685.2:g.101398154_101398157del	GRCh38
NC_000023.10:g.100653142_100653145del , CM000685.1:g.100653142_100653145del	GRCh37
NC_000023.9:g.100539798_100539801del	NCBI36
NG_007119.1:g.14810_14813del , LRG_672:g.14810_14813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-55_*446-52del (GLA)	ENSP00000501124.2:n.*446-55_*446-52del
ENST00000674127.2:c.*503-55_*503-52del (GLA)	ENSP00000501044.2:n.*503-55_*503-52del
ENST00000710365.1:c.1075-55_1075-52del (GLA)	ENSP00000518234.1:n.1075-55_1075-52del
ENST00000218516.4:c.1000-55_1000-52del (GLA) MANE Select	ENSP00000218516.4:n.1000-55_1000-52del
ENST00000466414.2:n.1136-55_1136-52del (GLA)
ENST00000468823.2:n.2367_2370del (GLA)
ENST00000479445.2:n.1614-55_1614-52del (GLA)
ENST00000480513.6:c.*308-55_*308-52del (GLA)	ENSP00000497055.1:n.*308-55_*308-52del
ENST00000486121.6:c.1045-55_1045-52del (GLA)
ENST00000649178.1:c.1123-55_1123-52del (GLA)	ENSP00000498186.1:n.1123-55_1123-52del
ENST00000674127.1:c.1100-55_1100-52del (GLA)	ENSP00000501044.1:n.1100-55_1100-52del
ENST00000674142.1:n.1304-55_1304-52del (GLA)
ENST00000675592.1:c.802-55_802-52del (GLA)	ENSP00000502239.1:n.802-55_802-52del
ENST00000675799.1:c.*525-55_*525-52del (GLA)	ENSP00000502661.1:n.*525-55_*525-52del
ENST00000675968.1:n.3871-55_3871-52del (GLA)
ENST00000676156.1:c.964-55_964-52del (GLA)	ENSP00000501730.1:n.964-55_964-52del
ENST00000676372.1:c.1066-55_1066-52del (GLA)	ENSP00000502805.1:n.1066-55_1066-52del
ENST00000218516.3:c.1000-55_1000-52del (GLA)	ENSP00000218516.3:n.1000-55_1000-52del
ENST00000409170.3:c.300+2697_300+2700del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2697_300+2700del
ENST00000409338.5:c.177+6332_177+6335del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6332_177+6335del
ENST00000466414.1:n.326-55_326-52del (GLA)
ENST00000493905.6:c.*388-55_*388-52del (GLA)	ENSP00000476935.1:n.*388-55_*388-52del
NM_000169.2:c.1000-55_1000-52del , LRG_672t1:c.1000-55_1000-52del (GLA)	NP_000160.1:n.1000-55_1000-52del
NM_001199973.1:c.408+2697_408+2700del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2697_408+2700del
NM_001199974.1:c.285+6332_285+6335del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6332_285+6335del
XR_938397.1:n.1085-55_1085-52del (GLA)
XR_938397.2:n.1106-55_1106-52del (GLA)
NM_001199973.2:c.300+2697_300+2700del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2697_300+2700del
NM_001199974.2:c.177+6332_177+6335del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6332_177+6335del
NM_000169.3:c.1000-55_1000-52del (GLA) MANE Select	NP_000160.1:n.1000-55_1000-52del
NR_164783.1:n.1079-55_1079-52del (GLA)