Canonical Allele Identifier: CA2448297683

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398021_101398022delinsCA , CM000685.2:g.101398021_101398022delinsCA	GRCh38
NC_000023.10:g.100653009_100653010delinsCA , CM000685.1:g.100653009_100653010delinsCA	GRCh37
NC_000023.9:g.100539665_100539666delinsCA	NCBI36
NG_007119.1:g.14942_14943delinsTG , LRG_672:g.14942_14943delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*523_*524delinsTG (GLA)	ENSP00000501124.2:n.*523_*524delinsTG
ENST00000674127.2:c.*580_*581delinsTG (GLA)	ENSP00000501044.2:n.*580_*581delinsTG
ENST00000710365.1:c.1152_1153delinsTG (GLA)	ENSP00000518234.1:p.Ile384=
ENST00000218516.4:c.1077_1078delinsTG (GLA) MANE Select	ENSP00000218516.4:p.Ile359=
ENST00000466414.2:n.1213_1214delinsTG (GLA)
ENST00000468823.2:n.2499_2500delinsTG (GLA)
ENST00000479445.2:n.1691_1692delinsTG (GLA)
ENST00000480513.6:c.*385_*386delinsTG (GLA)	ENSP00000497055.1:n.*385_*386delinsTG
ENST00000486121.6:c.1122_1123delinsTG (GLA)
ENST00000649178.1:c.1200_1201delinsTG (GLA)	ENSP00000498186.1:p.Ile400=
ENST00000674127.1:c.1177_1178delinsTG (GLA)	ENSP00000501044.1:n.1177_1178delinsTG
ENST00000674142.1:n.1381_1382delinsTG (GLA)
ENST00000675592.1:c.879_880delinsTG (GLA)	ENSP00000502239.1:p.Ile293=
ENST00000675799.1:c.*602_*603delinsTG (GLA)	ENSP00000502661.1:n.*602_*603delinsTG
ENST00000675968.1:n.3948_3949delinsTG (GLA)
ENST00000676156.1:c.1041_1042delinsTG (GLA)	ENSP00000501730.1:p.Ile347=
ENST00000676372.1:c.1143_1144delinsTG (GLA)	ENSP00000502805.1:n.1143_1144delinsTG
ENST00000218516.3:c.1077_1078delinsTG (GLA)	ENSP00000218516.3:p.Ile359=
ENST00000409170.3:c.300+2564_300+2565delinsCA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2564_300+2565delinsCA
ENST00000409338.5:c.177+6199_177+6200delinsCA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6199_177+6200delinsCA
ENST00000466414.1:n.403_404delinsTG (GLA)
ENST00000493905.6:c.*465_*466delinsTG (GLA)	ENSP00000476935.1:n.*465_*466delinsTG
NM_000169.2:c.1077_1078delinsTG , LRG_672t1:c.1077_1078delinsTG (GLA)	NP_000160.1:p.Ile359=
NM_001199973.1:c.408+2564_408+2565delinsCA (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2564_408+2565delinsCA
NM_001199974.1:c.285+6199_285+6200delinsCA (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6199_285+6200delinsCA
XR_938397.1:n.1162_1163delinsTG (GLA)
XR_938397.2:n.1183_1184delinsTG (GLA)
NM_001199973.2:c.300+2564_300+2565delinsCA (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2564_300+2565delinsCA
NM_001199974.2:c.177+6199_177+6200delinsCA (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6199_177+6200delinsCA
NM_000169.3:c.1077_1078delinsTG (GLA) MANE Select	NP_000160.1:p.Ile359=
NR_164783.1:n.1156_1157delinsTG (GLA)