Canonical Allele Identifier: CA2577646877

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724437_19724438del , CM000684.2:g.19724437_19724438del	GRCh38
NC_000022.10:g.19711960_19711961del , CM000684.1:g.19711960_19711961del	GRCh37
NC_000022.9:g.18091960_18091961del	NCBI36
NG_007974.1:g.5895_5896del , LRG_478:g.5895_5896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.594_595del (GP1BB) MANE Select	ENSP00000383382.2:p.Glu199AlafsTer?
ENST00000366425.3:c.594_595del (GP1BB)	ENSP00000383382.2:p.Glu199AlafsTer?
ENST00000431044.5:c.*1679_*1680del (SEPTIN5)	ENSP00000399685.1:n.*1679_*1680del
NM_000407.4:c.594_595del , LRG_478t1:c.594_595del (GP1BB)	NP_000398.1:p.Glu199AlafsTer?
NR_037611.1:n.4334_4335del
NR_037612.1:n.2838_2839del
NM_000407.5:c.594_595del (GP1BB) MANE Select	NP_000398.1:p.Glu199AlafsTer?