Canonical Allele Identifier: CA2448297923

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398292_101398293delinsGA , CM000685.2:g.101398292_101398293delinsGA	GRCh38
NC_000023.10:g.100653280_100653281delinsGA , CM000685.1:g.100653280_100653281delinsGA	GRCh37
NC_000023.9:g.100539936_100539937delinsGA	NCBI36
NG_007119.1:g.14671_14672delinsTC , LRG_672:g.14671_14672delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*445+77_*445+78delinsTC (GLA)	ENSP00000501124.2:n.*445+77_*445+78delinsTC
ENST00000674127.2:c.*502+77_*502+78delinsTC (GLA)	ENSP00000501044.2:n.*502+77_*502+78delinsTC
ENST00000710365.1:c.1074+77_1074+78delinsTC (GLA)	ENSP00000518234.1:n.1074+77_1074+78delinsTC
ENST00000218516.4:c.999+77_999+78delinsTC (GLA) MANE Select	ENSP00000218516.4:n.999+77_999+78delinsTC
ENST00000466414.2:n.1135+77_1135+78delinsTC (GLA)
ENST00000468823.2:n.2228_2229delinsTC (GLA)
ENST00000479445.2:n.1613+77_1613+78delinsTC (GLA)
ENST00000480513.6:c.*307+77_*307+78delinsTC (GLA)	ENSP00000497055.1:n.*307+77_*307+78delinsTC
ENST00000486121.6:c.1044+77_1044+78delinsTC (GLA)
ENST00000649178.1:c.1122+77_1122+78delinsTC (GLA)	ENSP00000498186.1:n.1122+77_1122+78delinsTC
ENST00000674127.1:c.1099+77_1099+78delinsTC (GLA)	ENSP00000501044.1:n.1099+77_1099+78delinsTC
ENST00000674142.1:n.1303+77_1303+78delinsTC (GLA)
ENST00000674634.2:c.1076_1077delinsTC (GLA)	ENSP00000502629.2:p.Phe359=
ENST00000675592.1:c.802-194_802-193delinsTC (GLA)	ENSP00000502239.1:n.802-194_802-193delinsTC
ENST00000675799.1:c.*524+77_*524+78delinsTC (GLA)	ENSP00000502661.1:n.*524+77_*524+78delinsTC
ENST00000675968.1:n.3870+77_3870+78delinsTC (GLA)
ENST00000676156.1:c.963+77_963+78delinsTC (GLA)	ENSP00000501730.1:n.963+77_963+78delinsTC
ENST00000676372.1:c.1065+77_1065+78delinsTC (GLA)	ENSP00000502805.1:n.1065+77_1065+78delinsTC
ENST00000218516.3:c.999+77_999+78delinsTC (GLA)	ENSP00000218516.3:n.999+77_999+78delinsTC
ENST00000409170.3:c.300+2835_300+2836delinsGA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2835_300+2836delinsGA
ENST00000409338.5:c.177+6470_177+6471delinsGA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6470_177+6471delinsGA
ENST00000466414.1:n.325+77_325+78delinsTC (GLA)
ENST00000493905.6:c.*387+77_*387+78delinsTC (GLA)	ENSP00000476935.1:n.*387+77_*387+78delinsTC
NM_000169.2:c.999+77_999+78delinsTC , LRG_672t1:c.999+77_999+78delinsTC (GLA)	NP_000160.1:n.999+77_999+78delinsTC
NM_001199973.1:c.408+2835_408+2836delinsGA (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2835_408+2836delinsGA
NM_001199974.1:c.285+6470_285+6471delinsGA (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6470_285+6471delinsGA
XR_938397.1:n.1084+77_1084+78delinsTC (GLA)
XR_938397.2:n.1105+77_1105+78delinsTC (GLA)
NM_001199973.2:c.300+2835_300+2836delinsGA (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2835_300+2836delinsGA
NM_001199974.2:c.177+6470_177+6471delinsGA (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6470_177+6471delinsGA
NM_000169.3:c.999+77_999+78delinsTC (GLA) MANE Select	NP_000160.1:n.999+77_999+78delinsTC
NR_164783.1:n.1078+77_1078+78delinsTC (GLA)