Canonical Allele Identifier: CA638352878
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1333440568
gnomAD v2: 22-19711898-CTGCGGGCCCGGGCCCGCG-C
MyVariant Identifiers: chr22:g.19711899_19711916del (hg19) chr22:g.19724376_19724393del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724376_19724393del , CM000684.2:g.19724376_19724393del GRCh38
NC_000022.10:g.19711899_19711916del , CM000684.1:g.19711899_19711916del GRCh37
NC_000022.9:g.18091899_18091916del NCBI36
NG_007974.1:g.5834_5851del , LRG_478:g.5834_5851del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.533_550del (GP1BB) MANE Select ENSP00000383382.2:p.Leu178_Ala184delinsPro
ENST00000366425.3:c.533_550del (GP1BB) ENSP00000383382.2:p.Leu178_Ala184delinsPro
ENST00000431044.5:c.*1618_*1635del (SEPTIN5) ENSP00000399685.1:n.*1618_*1635del
NM_000407.4:c.533_550del , LRG_478t1:c.533_550del (GP1BB) NP_000398.1:p.Leu178_Ala184delinsPro
NR_037611.1:n.4273_4290del
NR_037612.1:n.2777_2794del
NM_000407.5:c.533_550del (GP1BB) MANE Select NP_000398.1:p.Leu178_Ala184delinsPro
Search 100 bp 5'
Search 100 bp 3'