Canonical Allele Identifier: CA638352882
Gene: GP1BB HGNC NCBI
SEPTIN5 HGNC NCBI

Linked Data

dbSNP Id: rs1490548765
gnomAD v2: 22-19711970-GGAACCGACGAGTCCTGAGGAGA-G
gnomAD v4: 22-19724447-GGAACCGACGAGTCCTGAGGAGA-G
MyVariant Identifiers: chr22:g.19711971_19711992del (hg19) chr22:g.19724448_19724469del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19724454_19724475del , CM000684.2:g.19724454_19724475del GRCh38
NC_000022.10:g.19711977_19711998del , CM000684.1:g.19711977_19711998del GRCh37
NC_000022.9:g.18091977_18091998del NCBI36
NG_007974.1:g.5912_5933del , LRG_478:g.5912_5933del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366425.4:c.611_*11del (GP1BB) MANE Select ENSP00000383382.2:n.[c.611_*11del;Asp204GlyfsTer4]
ENST00000366425.3:c.611_*11del (GP1BB) ENSP00000383382.2:n.[c.611_*11del;Asp204GlyfsTer4]
ENST00000431044.5:c.*1696_*1717del (SEPTIN5) ENSP00000399685.1:n.*1696_*1717del
NM_000407.4:c.611_*11del , LRG_478t1:c.611_*11del (GP1BB) NP_000398.1:n.[c.611_*11del;Asp204GlyfsTer4]
NR_037611.1:n.4351_4372del
NR_037612.1:n.2855_2876del
NM_000407.5:c.611_*11del (GP1BB) MANE Select NP_000398.1:n.[c.611_*11del;Asp204GlyfsTer4]
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