Canonical Allele Identifier: CA333095164

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs113993944
• MyVariant Identifiers: chrX:g.100658881_100658882insT (hg19) ; chrX:g.101403893_101403894insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403894dup , CM000685.2:g.101403894dup	GRCh38
NC_000023.10:g.100658882dup , CM000685.1:g.100658882dup	GRCh37
NC_000023.9:g.100545538dup	NCBI36
NG_007119.1:g.9070dup , LRG_672:g.9070dup
NG_016327.1:g.692dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.286dup (GLA)	ENSP00000501124.2:p.Met96AsnfsTer27
ENST00000674127.2:c.286dup (GLA)	ENSP00000501044.2:p.Met96AsnfsTer27
ENST00000710365.1:c.361dup (GLA)	ENSP00000518234.1:p.Met121AsnfsTer27
ENST00000218516.4:c.286dup (GLA) MANE Select	ENSP00000218516.4:p.Met96AsnfsTer27
ENST00000466414.2:n.205dup (GLA)
ENST00000468823.2:n.347dup (GLA)
ENST00000479445.2:n.284dup (GLA)
ENST00000480513.6:c.286dup (GLA)	ENSP00000497055.1:p.Met96AsnfsTer27
ENST00000486121.6:c.216dup (GLA)
ENST00000649178.1:c.409dup (GLA)	ENSP00000498186.1:p.Met137AsnfsTer27
ENST00000674127.1:c.214dup (GLA)	ENSP00000501044.1:p.Met72AsnfsTer27
ENST00000674142.1:n.373dup (GLA)
ENST00000674634.2:c.286dup (GLA)	ENSP00000502629.2:p.Met96AsnfsTer27
ENST00000675592.1:c.286dup (GLA)	ENSP00000502239.1:p.Met96AsnfsTer27
ENST00000675799.1:c.286dup (GLA)	ENSP00000502661.1:p.Met96AsnfsTer27
ENST00000675968.1:n.347dup (GLA)
ENST00000676156.1:c.286dup (GLA)	ENSP00000501730.1:p.Met96AsnfsTer27
ENST00000676372.1:c.286dup (GLA)	ENSP00000502805.1:p.Met96AsnfsTer27
ENST00000218516.3:c.286dup (GLA)	ENSP00000218516.3:p.Met96AsnfsTer27
ENST00000409170.3:c.301-8042dup (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-8042dup
ENST00000409338.5:c.178-8042dup (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-8042dup
ENST00000479445.1:n.270dup (GLA)
ENST00000480513.5:n.216dup (GLA)
ENST00000486121.5:n.216dup (GLA)
ENST00000493905.6:c.286dup (GLA)	ENSP00000476935.1:p.Met96AsnfsTer27
NM_000169.2:c.286dup , LRG_672t1:c.286dup (GLA)	NP_000160.1:p.Met96AsnfsTer27
NM_001199973.1:c.409-8042dup (RPL36A-HNRNPH2)	NP_001186902.1:n.409-8042dup
NM_001199974.1:c.286-8042dup (RPL36A-HNRNPH2)	NP_001186903.1:n.286-8042dup
XR_938397.1:n.314dup (GLA)
XR_938397.2:n.335dup (GLA)
NM_001199973.2:c.301-8042dup (RPL36A-HNRNPH2)	NP_001186902.2:n.301-8042dup
NM_001199974.2:c.178-8042dup (RPL36A-HNRNPH2)	NP_001186903.2:n.178-8042dup
NM_000169.3:c.286dup (GLA) MANE Select	NP_000160.1:p.Met96AsnfsTer27
NR_164783.1:n.308dup (GLA)