Canonical Allele Identifier: CA2396008691

Gene: GP1BB SEPTIN5

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724462_19724465delinsTGAG , CM000684.2:g.19724462_19724465delinsTGAG	GRCh38
NC_000022.10:g.19711985_19711988delinsTGAG , CM000684.1:g.19711985_19711988delinsTGAG	GRCh37
NC_000022.9:g.18091985_18091988delinsTGAG	NCBI36
NG_007974.1:g.5920_5923delinsTGAG , LRG_478:g.5920_5923delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.619_*1delinsTGAG (GP1BB) MANE Select	ENSP00000383382.2:n.[c.619_*1delinsTGAG;Ter207=]
ENST00000366425.3:c.619_*1delinsTGAG (GP1BB)	ENSP00000383382.2:n.[c.619_*1delinsTGAG;Ter207=]
ENST00000431044.5:c.*1704_*1707delinsTGAG (SEPTIN5)	ENSP00000399685.1:n.*1704_*1707delinsTGAG
NM_000407.4:c.619_*1delinsTGAG , LRG_478t1:c.619_*1delinsTGAG (GP1BB)	NP_000398.1:n.[c.619_*1delinsTGAG;Ter207=]
NR_037611.1:n.4359_4362delinsTGAG
NR_037612.1:n.2863_2866delinsTGAG
NM_000407.5:c.619_*1delinsTGAG (GP1BB) MANE Select	NP_000398.1:n.[c.619_*1delinsTGAG;Ter207=]