Canonical Allele Identifier: CA10102351
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs754661200
ExAC: 22:19711980 AGTCCTGAGGAGAGAACCGGTGC / A
gnomAD v2: 22-19711980-AGTCCTGAGGAGAGAACCGGTGC-A
gnomAD v3: 22-19724457-AGTCCTGAGGAGAGAACCGGTGC-A
gnomAD v4: 22-19724457-AGTCCTGAGGAGAGAACCGGTGC-A
MyVariant Identifiers: chr22:g.19711981_19712002del (hg19) chr22:g.19724458_19724479del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724477_19724498del , CM000684.2:g.19724477_19724498del GRCh38
NC_000022.10:g.19712000_19712021del , CM000684.1:g.19712000_19712021del GRCh37
NC_000022.9:g.18092000_18092021del NCBI36
NG_007974.1:g.5935_5956del , LRG_478:g.5935_5956del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.*13_*34del (GP1BB) MANE Select ENSP00000383382.2:n.*13_*34del
ENST00000366425.3:c.*13_*34del (GP1BB) ENSP00000383382.2:n.*13_*34del
ENST00000431044.5:c.*1719_*1740del (SEPTIN5) ENSP00000399685.1:n.*1719_*1740del
NM_000407.4:c.*13_*34del , LRG_478t1:c.*13_*34del (GP1BB) NP_000398.1:n.*13_*34del
NR_037611.1:n.4374_4395del
NR_037612.1:n.2878_2899del
NM_000407.5:c.*13_*34del (GP1BB) MANE Select NP_000398.1:n.*13_*34del
Search 100 bp 5'
Search 100 bp 3'