Canonical Allele Identifier: CA2448299824

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403772_101403780delinsAGTCCTCTG , CM000685.2:g.101403772_101403780delinsAGTCCTCTG	GRCh38
NC_000023.10:g.100658760_100658768delinsAGTCCTCTG , CM000685.1:g.100658760_100658768delinsAGTCCTCTG	GRCh37
NC_000023.9:g.100545416_100545424delinsAGTCCTCTG	NCBI36
NG_007119.1:g.9184_9192delinsCAGAGGACT , LRG_672:g.9184_9192delinsCAGAGGACT
NG_016327.1:g.570_578delinsAGTCCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.369+31_369+39delinsCAGAGGACT (GLA)	ENSP00000501124.2:n.369+31_369+39delinsCAGAGGACT
ENST00000674127.2:c.369+31_369+39delinsCAGAGGACT (GLA)	ENSP00000501044.2:n.369+31_369+39delinsCAGAGGACT
ENST00000710365.1:c.444+31_444+39delinsCAGAGGACT (GLA)	ENSP00000518234.1:n.444+31_444+39delinsCAGAGGACT
ENST00000218516.4:c.369+31_369+39delinsCAGAGGACT (GLA) MANE Select	ENSP00000218516.4:n.369+31_369+39delinsCAGAGGACT
ENST00000466414.2:n.288+31_288+39delinsCAGAGGACT (GLA)
ENST00000468823.2:n.430+31_430+39delinsCAGAGGACT (GLA)
ENST00000479445.2:n.367+31_367+39delinsCAGAGGACT (GLA)
ENST00000480513.6:c.369+31_369+39delinsCAGAGGACT (GLA)	ENSP00000497055.1:n.369+31_369+39delinsCAGAGGACT
ENST00000486121.6:c.299+31_299+39delinsCAGAGGACT (GLA)
ENST00000649178.1:c.492+31_492+39delinsCAGAGGACT (GLA)	ENSP00000498186.1:n.492+31_492+39delinsCAGAGGACT
ENST00000674127.1:c.297+31_297+39delinsCAGAGGACT (GLA)	ENSP00000501044.1:n.297+31_297+39delinsCAGAGGACT
ENST00000674142.1:n.456+31_456+39delinsCAGAGGACT (GLA)
ENST00000674634.2:c.369+31_369+39delinsCAGAGGACT (GLA)	ENSP00000502629.2:n.369+31_369+39delinsCAGAGGACT
ENST00000675592.1:c.369+31_369+39delinsCAGAGGACT (GLA)	ENSP00000502239.1:n.369+31_369+39delinsCAGAGGACT
ENST00000675799.1:c.369+31_369+39delinsCAGAGGACT (GLA)	ENSP00000502661.1:n.369+31_369+39delinsCAGAGGACT
ENST00000675968.1:n.430+31_430+39delinsCAGAGGACT (GLA)
ENST00000676156.1:c.369+31_369+39delinsCAGAGGACT (GLA)	ENSP00000501730.1:n.369+31_369+39delinsCAGAGGACT
ENST00000676372.1:c.369+31_369+39delinsCAGAGGACT (GLA)	ENSP00000502805.1:n.369+31_369+39delinsCAGAGGACT
ENST00000218516.3:c.369+31_369+39delinsCAGAGGACT (GLA)	ENSP00000218516.3:n.369+31_369+39delinsCAGAGGACT
ENST00000409170.3:c.301-8164_301-8156delinsAGTCCTCTG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-8164_301-8156delinsAGTCCTCTG
ENST00000409338.5:c.178-8164_178-8156delinsAGTCCTCTG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-8164_178-8156delinsAGTCCTCTG
ENST00000479445.1:n.353+31_353+39delinsCAGAGGACT (GLA)
ENST00000480513.5:n.299+31_299+39delinsCAGAGGACT (GLA)
ENST00000486121.5:n.299+31_299+39delinsCAGAGGACT (GLA)
ENST00000493905.6:c.369+31_369+39delinsCAGAGGACT (GLA)	ENSP00000476935.1:n.369+31_369+39delinsCAGAGGACT
NM_000169.2:c.369+31_369+39delinsCAGAGGACT , LRG_672t1:c.369+31_369+39delinsCAGAGGACT (GLA)	NP_000160.1:n.369+31_369+39delinsCAGAGGACT
NM_001199973.1:c.409-8164_409-8156delinsAGTCCTCTG (RPL36A-HNRNPH2)	NP_001186902.1:n.409-8164_409-8156delinsAGTCCTCTG
NM_001199974.1:c.286-8164_286-8156delinsAGTCCTCTG (RPL36A-HNRNPH2)	NP_001186903.1:n.286-8164_286-8156delinsAGTCCTCTG
XR_938397.1:n.397+31_397+39delinsCAGAGGACT (GLA)
XR_938397.2:n.418+31_418+39delinsCAGAGGACT (GLA)
NM_001199973.2:c.301-8164_301-8156delinsAGTCCTCTG (RPL36A-HNRNPH2)	NP_001186902.2:n.301-8164_301-8156delinsAGTCCTCTG
NM_001199974.2:c.178-8164_178-8156delinsAGTCCTCTG (RPL36A-HNRNPH2)	NP_001186903.2:n.178-8164_178-8156delinsAGTCCTCTG
NM_000169.3:c.369+31_369+39delinsCAGAGGACT (GLA) MANE Select	NP_000160.1:n.369+31_369+39delinsCAGAGGACT
NR_164783.1:n.391+31_391+39delinsCAGAGGACT (GLA)