Canonical Allele Identifier: CA643537199

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1555986350
• gnomAD v2: X-100658986-T-TCTGGCTCTTCCTGGCAG
• MyVariant Identifiers: chrX:g.100658986_100658987insCTGGCTCTTCCTGGCAG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403998_101403999insCTGGCTCTTCCTGGCAG , CM000685.2:g.101403998_101403999insCTGGCTCTTCCTGGCAG	GRCh38
NC_000023.10:g.100658986_100658987insCTGGCTCTTCCTGGCAG , CM000685.1:g.100658986_100658987insCTGGCTCTTCCTGGCAG	GRCh37
NC_000023.9:g.100545642_100545643insCTGGCTCTTCCTGGCAG	NCBI36
NG_007119.1:g.8965_8966insCTGCCAGGAAGAGCCAG , LRG_672:g.8965_8966insCTGCCAGGAAGAGCCAG
NG_016327.1:g.796_797insCTGGCTCTTCCTGGCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000501124.2:n.195-14_195-13insCTGCC...
ENST00000674127.2:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000501044.2:n.195-14_195-13insCTGCC...
ENST00000710365.1:c.270-14_270-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000518234.1:n.270-14_270-13insCTGCC...
ENST00000218516.4:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA) MANE Select	ENSP00000218516.4:n.195-14_195-13insCTGCC...
ENST00000466414.2:n.114-14_114-13insCTGCCAGGAAGAGCCAG (GLA)
ENST00000468823.2:n.256-14_256-13insCTGCCAGGAAGAGCCAG (GLA)
ENST00000479445.2:n.193-14_193-13insCTGCCAGGAAGAGCCAG (GLA)
ENST00000480513.6:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000497055.1:n.195-14_195-13insCTGCC...
ENST00000486121.6:c.125-14_125-13insCTGCCAGGAAGAGCCAG (GLA)
ENST00000649178.1:c.318-14_318-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000498186.1:n.318-14_318-13insCTGCC...
ENST00000674127.1:c.123-14_123-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000501044.1:n.123-14_123-13insCTGCC...
ENST00000674142.1:n.282-14_282-13insCTGCCAGGAAGAGCCAG (GLA)
ENST00000674634.2:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000502629.2:n.195-14_195-13insCTGCC...
ENST00000675592.1:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000502239.1:n.195-14_195-13insCTGCC...
ENST00000675799.1:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000502661.1:n.195-14_195-13insCTGCC...
ENST00000675968.1:n.256-14_256-13insCTGCCAGGAAGAGCCAG (GLA)
ENST00000676156.1:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000501730.1:n.195-14_195-13insCTGCC...
ENST00000676372.1:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000502805.1:n.195-14_195-13insCTGCC...
ENST00000218516.3:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000218516.3:n.195-14_195-13insCTGCC...
ENST00000409170.3:c.301-7938_301-7937insCTGGCTCTTCCTGGCAG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-7938_301-7937insC...
ENST00000409338.5:c.178-7938_178-7937insCTGGCTCTTCCTGGCAG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-7938_178-7937insC...
ENST00000479445.1:n.179-14_179-13insCTGCCAGGAAGAGCCAG (GLA)
ENST00000480513.5:n.125-14_125-13insCTGCCAGGAAGAGCCAG (GLA)
ENST00000486121.5:n.125-14_125-13insCTGCCAGGAAGAGCCAG (GLA)
ENST00000493905.6:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA)	ENSP00000476935.1:n.195-14_195-13insCTGCC...
NM_000169.2:c.195-14_195-13insCTGCCAGGAAGAGCCAG , LRG_672t1:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA)	NP_000160.1:n.195-14_195-13insCTGCCAGGAAG...
NM_001199973.1:c.409-7938_409-7937insCTGGCTCTTCCTGGCAG (RPL36A-HNRNPH2)	NP_001186902.1:n.409-7938_409-7937insCTGG...
NM_001199974.1:c.286-7938_286-7937insCTGGCTCTTCCTGGCAG (RPL36A-HNRNPH2)	NP_001186903.1:n.286-7938_286-7937insCTGG...
XR_938397.1:n.223-14_223-13insCTGCCAGGAAGAGCCAG (GLA)
XR_938397.2:n.244-14_244-13insCTGCCAGGAAGAGCCAG (GLA)
NM_001199973.2:c.301-7938_301-7937insCTGGCTCTTCCTGGCAG (RPL36A-HNRNPH2)	NP_001186902.2:n.301-7938_301-7937insCTGG...
NM_001199974.2:c.178-7938_178-7937insCTGGCTCTTCCTGGCAG (RPL36A-HNRNPH2)	NP_001186903.2:n.178-7938_178-7937insCTGG...
NM_000169.3:c.195-14_195-13insCTGCCAGGAAGAGCCAG (GLA) MANE Select	NP_000160.1:n.195-14_195-13insCTGCCAGGAAG...
NR_164783.1:n.217-14_217-13insCTGCCAGGAAGAGCCAG (GLA)