Canonical Allele Identifier: CA638352883

Gene: GP1BB SEPTIN5

Linked Data

• dbSNP Id: rs1319364779
• gnomAD v2: 22-19711985-TGAG-T
• gnomAD v4: 22-19724462-TGAG-T
• MyVariant Identifiers: chr22:g.19711986_19711988del (hg19) ; chr22:g.19724463_19724465del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724466_19724468del , CM000684.2:g.19724466_19724468del	GRCh38
NC_000022.10:g.19711989_19711991del , CM000684.1:g.19711989_19711991del	GRCh37
NC_000022.9:g.18091989_18091991del	NCBI36
NG_007974.1:g.5924_5926del , LRG_478:g.5924_5926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.*2_*4del (GP1BB) MANE Select	ENSP00000383382.2:n.*2_*4del
ENST00000366425.3:c.*2_*4del (GP1BB)	ENSP00000383382.2:n.*2_*4del
ENST00000431044.5:c.*1708_*1710del (SEPTIN5)	ENSP00000399685.1:n.*1708_*1710del
NM_000407.4:c.*2_*4del , LRG_478t1:c.*2_*4del (GP1BB)	NP_000398.1:n.*2_*4del
NR_037611.1:n.4363_4365del
NR_037612.1:n.2867_2869del
NM_000407.5:c.*2_*4del (GP1BB) MANE Select	NP_000398.1:n.*2_*4del