Canonical Allele Identifier: CA2697544667

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2743219
• ClinVar RCV Id: RCV003509266

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403992_101403997del , CM000685.2:g.101403992_101403997del	GRCh38
NC_000023.10:g.100658980_100658985del , CM000685.1:g.100658980_100658985del	GRCh37
NC_000023.9:g.100545636_100545641del	NCBI36
NG_007119.1:g.8971_8976del , LRG_672:g.8971_8976del
NG_016327.1:g.790_795del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.195-8_195-3del (GLA)	ENSP00000501124.2:n.195-8_195-3del
ENST00000674127.2:c.195-8_195-3del (GLA)	ENSP00000501044.2:n.195-8_195-3del
ENST00000710365.1:c.270-8_270-3del (GLA)	ENSP00000518234.1:n.270-8_270-3del
ENST00000218516.4:c.195-8_195-3del (GLA) MANE Select	ENSP00000218516.4:n.195-8_195-3del
ENST00000466414.2:n.114-8_114-3del (GLA)
ENST00000468823.2:n.256-8_256-3del (GLA)
ENST00000479445.2:n.193-8_193-3del (GLA)
ENST00000480513.6:c.195-8_195-3del (GLA)	ENSP00000497055.1:n.195-8_195-3del
ENST00000486121.6:c.125-8_125-3del (GLA)
ENST00000649178.1:c.318-8_318-3del (GLA)	ENSP00000498186.1:n.318-8_318-3del
ENST00000674127.1:c.123-8_123-3del (GLA)	ENSP00000501044.1:n.123-8_123-3del
ENST00000674142.1:n.282-8_282-3del (GLA)
ENST00000674634.2:c.195-8_195-3del (GLA)	ENSP00000502629.2:n.195-8_195-3del
ENST00000675592.1:c.195-8_195-3del (GLA)	ENSP00000502239.1:n.195-8_195-3del
ENST00000675799.1:c.195-8_195-3del (GLA)	ENSP00000502661.1:n.195-8_195-3del
ENST00000675968.1:n.256-8_256-3del (GLA)
ENST00000676156.1:c.195-8_195-3del (GLA)	ENSP00000501730.1:n.195-8_195-3del
ENST00000676372.1:c.195-8_195-3del (GLA)	ENSP00000502805.1:n.195-8_195-3del
ENST00000218516.3:c.195-8_195-3del (GLA)	ENSP00000218516.3:n.195-8_195-3del
ENST00000409170.3:c.301-7944_301-7939del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-7944_301-7939del
ENST00000409338.5:c.178-7944_178-7939del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-7944_178-7939del
ENST00000479445.1:n.179-8_179-3del (GLA)
ENST00000480513.5:n.125-8_125-3del (GLA)
ENST00000486121.5:n.125-8_125-3del (GLA)
ENST00000493905.6:c.195-8_195-3del (GLA)	ENSP00000476935.1:n.195-8_195-3del
NM_000169.2:c.195-8_195-3del , LRG_672t1:c.195-8_195-3del (GLA)	NP_000160.1:n.195-8_195-3del
NM_001199973.1:c.409-7944_409-7939del (RPL36A-HNRNPH2)	NP_001186902.1:n.409-7944_409-7939del
NM_001199974.1:c.286-7944_286-7939del (RPL36A-HNRNPH2)	NP_001186903.1:n.286-7944_286-7939del
XR_938397.1:n.223-8_223-3del (GLA)
XR_938397.2:n.244-8_244-3del (GLA)
NM_001199973.2:c.301-7944_301-7939del (RPL36A-HNRNPH2)	NP_001186902.2:n.301-7944_301-7939del
NM_001199974.2:c.178-7944_178-7939del (RPL36A-HNRNPH2)	NP_001186903.2:n.178-7944_178-7939del
NM_000169.3:c.195-8_195-3del (GLA) MANE Select	NP_000160.1:n.195-8_195-3del
NR_164783.1:n.217-8_217-3del (GLA)