Canonical Allele Identifier: CA2580089152
Community Standard Title: NM_000810.4(GABRA5):c.983_988del (p.Tyr328_Ala329del)
Gene: GABRA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.26943320_26943325del , CM000677.2:g.26943320_26943325del GRCh38
NC_000015.9:g.27188467_27188472del , CM000677.1:g.27188467_27188472del GRCh37
NC_000015.8:g.24771213_24771218del NCBI36
NG_032883.1:g.81602_81607del

Transcript Alleles

HGVS Amino-acid Change
NM_000810.4:c.983_988del MANE Select NP_000801.1:p.Tyr328_Ala329del
ENST00000335625.10:c.983_988del MANE Select ENSP00000335592.5:p.Tyr328_Ala329del
NM_000810.3:c.983_988del NP_000801.1:p.Tyr328_Ala329del
NM_001165037.1:c.983_988del NP_001158509.1:p.Tyr328_Ala329del
NM_001165037.2:c.983_988del NP_001158509.1:p.Tyr328_Ala329del
ENST00000335625.9:c.983_988del ENSP00000335592.5:p.Tyr328_Ala329del
ENST00000355395.9:c.983_988del ENSP00000347557.5:p.Tyr328_Ala329del
ENST00000400081.7:c.983_988del ENSP00000382953.3:p.Tyr328_Ala329del
XM_005268258.1:c.983_988del XP_005268315.1:p.Tyr328_Ala329del
XM_005268258.2:c.983_988del XP_005268315.1:p.Tyr328_Ala329del
XM_006720459.1:c.983_988del XP_006720522.1:p.Tyr328_Ala329del
XM_006720459.2:c.983_988del XP_006720522.1:p.Tyr328_Ala329del
XM_017022055.1:c.878-137_878-132del XP_016877544.1:n.878-137_878-132del
XM_017022056.1:c.878-137_878-132del XP_016877545.1:n.878-137_878-132del