Canonical Allele Identifier: CA2396008693

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1936126460
• gnomAD v4: 22-19724465-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724470_19724471del , CM000684.2:g.19724470_19724471del	GRCh38
NC_000022.10:g.19711993_19711994del , CM000684.1:g.19711993_19711994del	GRCh37
NC_000022.9:g.18091993_18091994del	NCBI36
NG_007974.1:g.5928_5929del , LRG_478:g.5928_5929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.*6_*7del (GP1BB) MANE Select	ENSP00000383382.2:n.*6_*7del
ENST00000366425.3:c.*6_*7del (GP1BB)	ENSP00000383382.2:n.*6_*7del
ENST00000431044.5:c.*1712_*1713del (SEPTIN5)	ENSP00000399685.1:n.*1712_*1713del
NM_000407.4:c.*6_*7del , LRG_478t1:c.*6_*7del (GP1BB)	NP_000398.1:n.*6_*7del
NR_037611.1:n.4367_4368del
NR_037612.1:n.2871_2872del
NM_000407.5:c.*6_*7del (GP1BB) MANE Select	NP_000398.1:n.*6_*7del