Canonical Allele Identifier: CA638352877
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1187547358
gnomAD v2: 22-19711871-GTGC-G
gnomAD v4: 22-19724348-GTGC-G
MyVariant Identifiers: chr22:g.19711872_19711874del (hg19) chr22:g.19724349_19724351del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724357_19724359del , CM000684.2:g.19724357_19724359del GRCh38
NC_000022.10:g.19711880_19711882del , CM000684.1:g.19711880_19711882del GRCh37
NC_000022.9:g.18091880_18091882del NCBI36
NG_007974.1:g.5815_5817del , LRG_478:g.5815_5817del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.514_516del (GP1BB) MANE Select ENSP00000383382.2:p.Leu172del
ENST00000366425.3:c.514_516del (GP1BB) ENSP00000383382.2:p.Leu172del
ENST00000431044.5:c.*1599_*1601del (SEPTIN5) ENSP00000399685.1:n.*1599_*1601del
NM_000407.4:c.514_516del , LRG_478t1:c.514_516del (GP1BB) NP_000398.1:p.Leu172del
NR_037611.1:n.4254_4256del
NR_037612.1:n.2758_2760del
NM_000407.5:c.514_516del (GP1BB) MANE Select NP_000398.1:p.Leu172del
Search 100 bp 5'
Search 100 bp 3'