Canonical Allele Identifier: CA1139667714

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 981098
• ClinVar RCV Id: RCV001260388
• dbSNP Id: rs1928125824

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397972_101397975dup , CM000685.2:g.101397972_101397975dup	GRCh38
NC_000023.10:g.100652960_100652963dup , CM000685.1:g.100652960_100652963dup	GRCh37
NC_000023.9:g.100539616_100539619dup	NCBI36
NG_007119.1:g.14990_14993dup , LRG_672:g.14990_14993dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*571_*574dup (GLA)	ENSP00000501124.2:n.*571_*574dup
ENST00000674127.2:c.*628_*631dup (GLA)	ENSP00000501044.2:n.*628_*631dup
ENST00000710365.1:c.1200_1203dup (GLA)	ENSP00000518234.1:p.Ala402SerfsTer4
ENST00000218516.4:c.1125_1128dup (GLA) MANE Select	ENSP00000218516.4:p.Ala377SerfsTer4
ENST00000466414.2:n.1261_1264dup (GLA)
ENST00000468823.2:n.2547_2550dup (GLA)
ENST00000479445.2:n.1739_1742dup (GLA)
ENST00000480513.6:c.*433_*436dup (GLA)	ENSP00000497055.1:n.*433_*436dup
ENST00000486121.6:c.1170_1173dup (GLA)
ENST00000649178.1:c.1248_1251dup (GLA)	ENSP00000498186.1:p.Ala418SerfsTer4
ENST00000674127.1:c.1225_1228dup (GLA)	ENSP00000501044.1:n.1225_1228dup
ENST00000674142.1:n.1421+8_1421+11dup (GLA)
ENST00000675592.1:c.927_930dup (GLA)	ENSP00000502239.1:p.Ala311SerfsTer4
ENST00000675799.1:c.*650_*653dup (GLA)	ENSP00000502661.1:n.*650_*653dup
ENST00000675968.1:n.3996_3999dup (GLA)
ENST00000676156.1:c.1089_1092dup (GLA)	ENSP00000501730.1:p.Ala365SerfsTer4
ENST00000676372.1:c.1191_1194dup (GLA)	ENSP00000502805.1:n.1191_1194dup
ENST00000218516.3:c.1125_1128dup (GLA)	ENSP00000218516.3:p.Ala377SerfsTer4
ENST00000409170.3:c.300+2515_300+2518dup (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2515_300+2518dup
ENST00000409338.5:c.177+6150_177+6153dup (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6150_177+6153dup
ENST00000466414.1:n.451_454dup (GLA)
ENST00000493905.6:c.*513_*516dup (GLA)	ENSP00000476935.1:n.*513_*516dup
NM_000169.2:c.1125_1128dup , LRG_672t1:c.1125_1128dup (GLA)	NP_000160.1:p.Ala377SerfsTer4
NM_001199973.1:c.408+2515_408+2518dup (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2515_408+2518dup
NM_001199974.1:c.285+6150_285+6153dup (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6150_285+6153dup
XR_938397.1:n.1210_1213dup (GLA)
XR_938397.2:n.1231_1234dup (GLA)
NM_001199973.2:c.300+2515_300+2518dup (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2515_300+2518dup
NM_001199974.2:c.177+6150_177+6153dup (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6150_177+6153dup
NM_000169.3:c.1125_1128dup (GLA) MANE Select	NP_000160.1:p.Ala377SerfsTer4
NR_164783.1:n.1204_1207dup (GLA)