Canonical Allele Identifier: CA751435247
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1487216844
gnomAD v3: 22-19724477-T-TGCGTCCTGAGGAGAGAACCGGC
gnomAD v4: 22-19724477-T-TGCGTCCTGAGGAGAGAACCGGC
MyVariant Identifiers: chr22:g.19712000_19712001insGCGTCCTGAGGAGAGAACCGGC (hg19) chr22:g.19724477_19724478insGCGTCCTGAGGAGAGAACCGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724480_19724501dup , CM000684.2:g.19724480_19724501dup GRCh38
NC_000022.10:g.19712003_19712024dup , CM000684.1:g.19712003_19712024dup GRCh37
NC_000022.9:g.18092003_18092024dup NCBI36
NG_007974.1:g.5938_5959dup , LRG_478:g.5938_5959dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.*16_*37dup (GP1BB) MANE Select ENSP00000383382.2:n.*16_*37dup
ENST00000366425.3:c.*16_*37dup (GP1BB) ENSP00000383382.2:n.*16_*37dup
ENST00000431044.5:c.*1722_*1743dup (SEPTIN5) ENSP00000399685.1:n.*1722_*1743dup
NM_000407.4:c.*16_*37dup , LRG_478t1:c.*16_*37dup (GP1BB) NP_000398.1:n.*16_*37dup
NR_037611.1:n.4377_4398dup
NR_037612.1:n.2881_2902dup
NM_000407.5:c.*16_*37dup (GP1BB) MANE Select NP_000398.1:n.*16_*37dup
Search 100 bp 5'
Search 100 bp 3'