Canonical Allele Identifier: CA2694298733

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101400922-GTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400923_101400925del , CM000685.2:g.101400923_101400925del	GRCh38
NC_000023.10:g.100655911_100655913del , CM000685.1:g.100655911_100655913del	GRCh37
NC_000023.9:g.100542567_100542569del	NCBI36
NG_007119.1:g.12039_12041del , LRG_672:g.12039_12041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.663-168_663-166del (GLA)	ENSP00000501124.2:n.663-168_663-166del
ENST00000674127.2:c.663-168_663-166del (GLA)	ENSP00000501044.2:n.663-168_663-166del
ENST00000710365.1:c.623-168_623-166del (GLA)	ENSP00000518234.1:n.623-168_623-166del
ENST00000218516.4:c.548-168_548-166del (GLA) MANE Select	ENSP00000218516.4:n.548-168_548-166del
ENST00000466414.2:n.467-168_467-166del (GLA)
ENST00000468823.2:n.1315_1317del (GLA)
ENST00000479445.2:n.945-168_945-166del (GLA)
ENST00000480513.6:c.547+707_547+709del (GLA)	ENSP00000497055.1:n.547+707_547+709del
ENST00000486121.6:c.593-168_593-166del (GLA)
ENST00000649178.1:c.671-168_671-166del (GLA)	ENSP00000498186.1:n.671-168_671-166del
ENST00000674127.1:c.591-168_591-166del (GLA)	ENSP00000501044.1:n.591-168_591-166del
ENST00000674142.1:n.635-168_635-166del (GLA)
ENST00000674634.2:c.548-168_548-166del (GLA)	ENSP00000502629.2:n.548-168_548-166del
ENST00000675592.1:c.548-168_548-166del (GLA)	ENSP00000502239.1:n.548-168_548-166del
ENST00000675799.1:c.547+707_547+709del (GLA)	ENSP00000502661.1:n.547+707_547+709del
ENST00000675968.1:n.1315_1317del (GLA)
ENST00000676156.1:c.512-168_512-166del (GLA)	ENSP00000501730.1:n.512-168_512-166del
ENST00000676372.1:c.548-168_548-166del (GLA)	ENSP00000502805.1:n.548-168_548-166del
ENST00000218516.3:c.548-168_548-166del (GLA)	ENSP00000218516.3:n.548-168_548-166del
ENST00000409170.3:c.300+5466_300+5468del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5466_300+5468del
ENST00000409338.5:c.177+9101_177+9103del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9101_177+9103del
ENST00000480513.5:n.477+707_477+709del (GLA)
ENST00000486121.5:n.593-168_593-166del (GLA)
ENST00000493905.6:c.548-168_548-166del (GLA)	ENSP00000476935.1:n.548-168_548-166del
NM_000169.2:c.548-168_548-166del , LRG_672t1:c.548-168_548-166del (GLA)	NP_000160.1:n.548-168_548-166del
NM_001199973.1:c.408+5466_408+5468del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5466_408+5468del
NM_001199974.1:c.285+9101_285+9103del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9101_285+9103del
XR_938397.1:n.576-168_576-166del (GLA)
XR_938397.2:n.597-168_597-166del (GLA)
NM_001199973.2:c.300+5466_300+5468del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5466_300+5468del
NM_001199974.2:c.177+9101_177+9103del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9101_177+9103del
NM_000169.3:c.548-168_548-166del (GLA) MANE Select	NP_000160.1:n.548-168_548-166del
NR_164783.1:n.570-168_570-166del (GLA)