Canonical Allele Identifier: CA2396008689

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724457_19724479delinsAGTCCTGAGGAGAGAACCGGTGC , CM000684.2:g.19724457_19724479delinsAGTCCTGAGGAGAGAACCGGTGC	GRCh38
NC_000022.10:g.19711980_19712002delinsAGTCCTGAGGAGAGAACCGGTGC , CM000684.1:g.19711980_19712002delinsAGTCCTGAGGAGAGAACCGGTGC	GRCh37
NC_000022.9:g.18091980_18092002delinsAGTCCTGAGGAGAGAACCGGTGC	NCBI36
NG_007974.1:g.5915_5937delinsAGTCCTGAGGAGAGAACCGGTGC , LRG_478:g.5915_5937delinsAGTCCTGAGGAGAGAACCGGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.614_*15delinsAGTCCTGAGGAGAGAACCGGTGC (GP1BB) MANE Select	ENSP00000383382.2:n.[c.614_*15delinsAGTCCTGAGGAGAGAACCGGTGC;G...
ENST00000366425.3:c.614_*15delinsAGTCCTGAGGAGAGAACCGGTGC (GP1BB)	ENSP00000383382.2:n.[c.614_*15delinsAGTCCTGAGGAGAGAACCGGTGC;G...
ENST00000431044.5:c.*1699_*1721delinsAGTCCTGAGGAGAGAACCGGTGC (SEPTIN5)	ENSP00000399685.1:n.*1699_*1721delinsAGTCCTGAGGAGAGAACCGGTGC
NM_000407.4:c.614_*15delinsAGTCCTGAGGAGAGAACCGGTGC , LRG_478t1:c.614_*15delinsAGTCCTGAGGAGAGAACCGGTGC (GP1BB)	NP_000398.1:n.[c.614_*15delinsAGTCCTGAGGAGAGAACCGGTGC;Glu205=...
NR_037611.1:n.4354_4376delinsAGTCCTGAGGAGAGAACCGGTGC
NR_037612.1:n.2858_2880delinsAGTCCTGAGGAGAGAACCGGTGC
NM_000407.5:c.614_*15delinsAGTCCTGAGGAGAGAACCGGTGC (GP1BB) MANE Select	NP_000398.1:n.[c.614_*15delinsAGTCCTGAGGAGAGAACCGGTGC;Glu205=...