Canonical Allele Identifier: CA517736733

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs781793999
• gnomAD v2: X-100653223-ATAAAG-A
• gnomAD v3: X-101398235-ATAAAG-A
• gnomAD v4: X-101398235-ATAAAG-A
• MyVariant Identifiers: chrX:g.100653224_100653228del (hg19) ; chrX:g.101398236_101398240del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398239_101398243del , CM000685.2:g.101398239_101398243del	GRCh38
NC_000023.10:g.100653227_100653231del , CM000685.1:g.100653227_100653231del	GRCh37
NC_000023.9:g.100539883_100539887del	NCBI36
NG_007119.1:g.14724_14728del , LRG_672:g.14724_14728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*445+130_*445+134del (GLA)	ENSP00000501124.2:n.*445+130_*445+134del
ENST00000674127.2:c.*502+130_*502+134del (GLA)	ENSP00000501044.2:n.*502+130_*502+134del
ENST00000710365.1:c.1074+130_1074+134del (GLA)	ENSP00000518234.1:n.1074+130_1074+134del
ENST00000218516.4:c.999+130_999+134del (GLA) MANE Select	ENSP00000218516.4:n.999+130_999+134del
ENST00000466414.2:n.1135+130_1135+134del (GLA)
ENST00000468823.2:n.2281_2285del (GLA)
ENST00000479445.2:n.1613+130_1613+134del (GLA)
ENST00000480513.6:c.*307+130_*307+134del (GLA)	ENSP00000497055.1:n.*307+130_*307+134del
ENST00000486121.6:c.1044+130_1044+134del (GLA)
ENST00000649178.1:c.1122+130_1122+134del (GLA)	ENSP00000498186.1:n.1122+130_1122+134del
ENST00000674127.1:c.1099+130_1099+134del (GLA)	ENSP00000501044.1:n.1099+130_1099+134del
ENST00000674142.1:n.1303+130_1303+134del (GLA)
ENST00000675592.1:c.802-141_802-137del (GLA)	ENSP00000502239.1:n.802-141_802-137del
ENST00000675799.1:c.*524+130_*524+134del (GLA)	ENSP00000502661.1:n.*524+130_*524+134del
ENST00000675968.1:n.3870+130_3870+134del (GLA)
ENST00000676156.1:c.963+130_963+134del (GLA)	ENSP00000501730.1:n.963+130_963+134del
ENST00000676372.1:c.1065+130_1065+134del (GLA)	ENSP00000502805.1:n.1065+130_1065+134del
ENST00000218516.3:c.999+130_999+134del (GLA)	ENSP00000218516.3:n.999+130_999+134del
ENST00000409170.3:c.300+2782_300+2786del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2782_300+2786del
ENST00000409338.5:c.177+6417_177+6421del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6417_177+6421del
ENST00000466414.1:n.325+130_325+134del (GLA)
ENST00000493905.6:c.*387+130_*387+134del (GLA)	ENSP00000476935.1:n.*387+130_*387+134del
NM_000169.2:c.999+130_999+134del , LRG_672t1:c.999+130_999+134del (GLA)	NP_000160.1:n.999+130_999+134del
NM_001199973.1:c.408+2782_408+2786del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2782_408+2786del
NM_001199974.1:c.285+6417_285+6421del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6417_285+6421del
XR_938397.1:n.1084+130_1084+134del (GLA)
XR_938397.2:n.1105+130_1105+134del (GLA)
NM_001199973.2:c.300+2782_300+2786del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2782_300+2786del
NM_001199974.2:c.177+6417_177+6421del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6417_177+6421del
NM_000169.3:c.999+130_999+134del (GLA) MANE Select	NP_000160.1:n.999+130_999+134del
NR_164783.1:n.1078+130_1078+134del (GLA)