Canonical Allele Identifier: CA2694298288

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101398356-A-ATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398357_101398358insTTT , CM000685.2:g.101398357_101398358insTTT	GRCh38
NC_000023.10:g.100653345_100653346insTTT , CM000685.1:g.100653345_100653346insTTT	GRCh37
NC_000023.9:g.100540001_100540002insTTT	NCBI36
NG_007119.1:g.14607_14608insAAA , LRG_672:g.14607_14608insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*445+13_*445+14insAAA (GLA)	ENSP00000501124.2:n.*445+13_*445+14insAAA
ENST00000674127.2:c.*502+13_*502+14insAAA (GLA)	ENSP00000501044.2:n.*502+13_*502+14insAAA
ENST00000710365.1:c.1074+13_1074+14insAAA (GLA)	ENSP00000518234.1:n.1074+13_1074+14insAAA
ENST00000218516.4:c.999+13_999+14insAAA (GLA) MANE Select	ENSP00000218516.4:n.999+13_999+14insAAA
ENST00000466414.2:n.1135+13_1135+14insAAA (GLA)
ENST00000468823.2:n.2164_2165insAAA (GLA)
ENST00000479445.2:n.1613+13_1613+14insAAA (GLA)
ENST00000480513.6:c.*307+13_*307+14insAAA (GLA)	ENSP00000497055.1:n.*307+13_*307+14insAAA
ENST00000486121.6:c.1044+13_1044+14insAAA (GLA)
ENST00000649178.1:c.1122+13_1122+14insAAA (GLA)	ENSP00000498186.1:n.1122+13_1122+14insAAA
ENST00000674127.1:c.1099+13_1099+14insAAA (GLA)	ENSP00000501044.1:n.1099+13_1099+14insAAA
ENST00000674142.1:n.1303+13_1303+14insAAA (GLA)
ENST00000674634.2:c.1012_1013insAAA (GLA)	ENSP00000502629.2:p.Ser337_Ile338insLys
ENST00000675592.1:c.802-258_802-257insAAA (GLA)	ENSP00000502239.1:n.802-258_802-257insAAA
ENST00000675799.1:c.*524+13_*524+14insAAA (GLA)	ENSP00000502661.1:n.*524+13_*524+14insAAA
ENST00000675968.1:n.3870+13_3870+14insAAA (GLA)
ENST00000676156.1:c.963+13_963+14insAAA (GLA)	ENSP00000501730.1:n.963+13_963+14insAAA
ENST00000676372.1:c.1065+13_1065+14insAAA (GLA)	ENSP00000502805.1:n.1065+13_1065+14insAAA
ENST00000218516.3:c.999+13_999+14insAAA (GLA)	ENSP00000218516.3:n.999+13_999+14insAAA
ENST00000409170.3:c.300+2900_300+2901insTTT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2900_300+2901insTTT
ENST00000409338.5:c.177+6535_177+6536insTTT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6535_177+6536insTTT
ENST00000466414.1:n.325+13_325+14insAAA (GLA)
ENST00000493905.6:c.*387+13_*387+14insAAA (GLA)	ENSP00000476935.1:n.*387+13_*387+14insAAA
NM_000169.2:c.999+13_999+14insAAA , LRG_672t1:c.999+13_999+14insAAA (GLA)	NP_000160.1:n.999+13_999+14insAAA
NM_001199973.1:c.408+2900_408+2901insTTT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2900_408+2901insTTT
NM_001199974.1:c.285+6535_285+6536insTTT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6535_285+6536insTTT
XR_938397.1:n.1084+13_1084+14insAAA (GLA)
XR_938397.2:n.1105+13_1105+14insAAA (GLA)
NM_001199973.2:c.300+2900_300+2901insTTT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2900_300+2901insTTT
NM_001199974.2:c.177+6535_177+6536insTTT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6535_177+6536insTTT
NM_000169.3:c.999+13_999+14insAAA (GLA) MANE Select	NP_000160.1:n.999+13_999+14insAAA
NR_164783.1:n.1078+13_1078+14insAAA (GLA)