Canonical Allele Identifier: CA2577646871

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724307_19724318del , CM000684.2:g.19724307_19724318del	GRCh38
NC_000022.10:g.19711830_19711841del , CM000684.1:g.19711830_19711841del	GRCh37
NC_000022.9:g.18091830_18091841del	NCBI36
NG_007974.1:g.5765_5776del , LRG_478:g.5765_5776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.464_475del (GP1BB) MANE Select	ENSP00000383382.2:p.Leu155_Gly159delinsArg
ENST00000366425.3:c.464_475del (GP1BB)	ENSP00000383382.2:p.Leu155_Gly159delinsArg
ENST00000431044.5:c.*1549_*1560del (SEPTIN5)	ENSP00000399685.1:n.*1549_*1560del
NM_000407.4:c.464_475del , LRG_478t1:c.464_475del (GP1BB)	NP_000398.1:p.Leu155_Gly159delinsArg
NR_037611.1:n.4204_4215del
NR_037612.1:n.2708_2719del
NM_000407.5:c.464_475del (GP1BB) MANE Select	NP_000398.1:p.Leu155_Gly159delinsArg