Canonical Allele Identifier: CA032205

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs781949898
• ExAC: X:100653587 AGAG / A
• gnomAD v2: X-100653587-AGAG-A
• gnomAD v3: X-101398599-AGAG-A
• gnomAD v4: X-101398599-AGAG-A
• MyVariant Identifiers: chrX:g.100653588_100653590del (hg19) ; chrX:g.101398600_101398602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398605_101398607del , CM000685.2:g.101398605_101398607del	GRCh38
NC_000023.10:g.100653593_100653595del , CM000685.1:g.100653593_100653595del	GRCh37
NC_000023.9:g.100540249_100540251del	NCBI36
NG_007119.1:g.14362_14364del , LRG_672:g.14362_14364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*248-35_*248-33del (GLA)	ENSP00000501124.2:n.*248-35_*248-33del
ENST00000674127.2:c.*305-35_*305-33del (GLA)	ENSP00000501044.2:n.*305-35_*305-33del
ENST00000710365.1:c.877-35_877-33del (GLA)	ENSP00000518234.1:n.877-35_877-33del
ENST00000218516.4:c.802-35_802-33del (GLA) MANE Select	ENSP00000218516.4:n.802-35_802-33del
ENST00000466414.2:n.903_905del (GLA)
ENST00000468823.2:n.1919_1921del (GLA)
ENST00000479445.2:n.1381_1383del (GLA)
ENST00000480513.6:c.*110-35_*110-33del (GLA)	ENSP00000497055.1:n.*110-35_*110-33del
ENST00000486121.6:c.847-35_847-33del (GLA)
ENST00000649178.1:c.925-35_925-33del (GLA)	ENSP00000498186.1:n.925-35_925-33del
ENST00000674127.1:c.902-35_902-33del (GLA)	ENSP00000501044.1:n.902-35_902-33del
ENST00000674142.1:n.1071_1073del (GLA)
ENST00000674634.2:c.802-35_802-33del (GLA)	ENSP00000502629.2:n.802-35_802-33del
ENST00000675592.1:c.801+183_801+185del (GLA)	ENSP00000502239.1:n.801+183_801+185del
ENST00000675799.1:c.*292_*294del (GLA)	ENSP00000502661.1:n.*292_*294del
ENST00000675968.1:n.3638_3640del (GLA)
ENST00000676156.1:c.766-35_766-33del (GLA)	ENSP00000501730.1:n.766-35_766-33del
ENST00000676372.1:c.868-35_868-33del (GLA)	ENSP00000502805.1:n.868-35_868-33del
ENST00000218516.3:c.802-35_802-33del (GLA)	ENSP00000218516.3:n.802-35_802-33del
ENST00000409170.3:c.300+3148_300+3150del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3148_300+3150del
ENST00000409338.5:c.177+6783_177+6785del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6783_177+6785del
ENST00000466414.1:n.93_95del (GLA)
ENST00000468823.1:n.533_535del (GLA)
ENST00000493905.6:c.*190-35_*190-33del (GLA)	ENSP00000476935.1:n.*190-35_*190-33del
NM_000169.2:c.802-35_802-33del , LRG_672t1:c.802-35_802-33del (GLA)	NP_000160.1:n.802-35_802-33del
NM_001199973.1:c.408+3148_408+3150del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3148_408+3150del
NM_001199974.1:c.285+6783_285+6785del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6783_285+6785del
XR_938397.1:n.887-35_887-33del (GLA)
XR_938397.2:n.908-35_908-33del (GLA)
NM_001199973.2:c.300+3148_300+3150del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3148_300+3150del
NM_001199974.2:c.177+6783_177+6785del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6783_177+6785del
NM_000169.3:c.802-35_802-33del (GLA) MANE Select	NP_000160.1:n.802-35_802-33del
NR_164783.1:n.881-35_881-33del (GLA)