Canonical Allele Identifier: CA2739273650

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397951_101397953dup , CM000685.2:g.101397951_101397953dup	GRCh38
NC_000023.10:g.100652939_100652941dup , CM000685.1:g.100652939_100652941dup	GRCh37
NC_000023.9:g.100539595_100539597dup	NCBI36
NG_007119.1:g.15012_15014dup , LRG_672:g.15012_15014dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*593_*595dup (GLA)	ENSP00000501124.2:n.*593_*595dup
ENST00000674127.2:c.*650_*652dup (GLA)	ENSP00000501044.2:n.*650_*652dup
ENST00000710365.1:c.1222_1224dup (GLA)	ENSP00000518234.1:p.Phe408_Ile409insPhe
ENST00000218516.4:c.1147_1149dup (GLA) MANE Select	ENSP00000218516.4:p.Phe383_Ile384insPhe
ENST00000466414.2:n.1283_1285dup (GLA)
ENST00000468823.2:n.2569_2571dup (GLA)
ENST00000479445.2:n.1761_1763dup (GLA)
ENST00000480513.6:c.*455_*457dup (GLA)	ENSP00000497055.1:n.*455_*457dup
ENST00000486121.6:c.1192_1194dup (GLA)
ENST00000649178.1:c.1270_1272dup (GLA)	ENSP00000498186.1:p.Phe424_Ile425insPhe
ENST00000674127.1:c.1247_1249dup (GLA)	ENSP00000501044.1:n.1247_1249dup
ENST00000674142.1:n.1421+30_1421+32dup (GLA)
ENST00000675592.1:c.949_951dup (GLA)	ENSP00000502239.1:p.Phe317_Ile318insPhe
ENST00000675799.1:c.*672_*674dup (GLA)	ENSP00000502661.1:n.*672_*674dup
ENST00000675968.1:n.4018_4020dup (GLA)
ENST00000676156.1:c.1111_1113dup (GLA)	ENSP00000501730.1:p.Phe371_Ile372insPhe
ENST00000676372.1:c.1213_1215dup (GLA)	ENSP00000502805.1:n.1213_1215dup
ENST00000218516.3:c.1147_1149dup (GLA)	ENSP00000218516.3:p.Phe383_Ile384insPhe
ENST00000409170.3:c.300+2494_300+2496dup (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2494_300+2496dup
ENST00000409338.5:c.177+6129_177+6131dup (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6129_177+6131dup
ENST00000466414.1:n.473_475dup (GLA)
ENST00000493905.6:c.*535_*537dup (GLA)	ENSP00000476935.1:n.*535_*537dup
NM_000169.2:c.1147_1149dup , LRG_672t1:c.1147_1149dup (GLA)	NP_000160.1:p.Phe383_Ile384insPhe
NM_001199973.1:c.408+2494_408+2496dup (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2494_408+2496dup
NM_001199974.1:c.285+6129_285+6131dup (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6129_285+6131dup
XR_938397.1:n.1232_1234dup (GLA)
XR_938397.2:n.1253_1255dup (GLA)
NM_001199973.2:c.300+2494_300+2496dup (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2494_300+2496dup
NM_001199974.2:c.177+6129_177+6131dup (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6129_177+6131dup
NM_000169.3:c.1147_1149dup (GLA) MANE Select	NP_000160.1:p.Phe383_Ile384insPhe
NR_164783.1:n.1226_1228dup (GLA)