Canonical Allele Identifier: CA2655305434

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724280-TCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724289_19724319del , CM000684.2:g.19724289_19724319del	GRCh38
NC_000022.10:g.19711812_19711842del , CM000684.1:g.19711812_19711842del	GRCh37
NC_000022.9:g.18091812_18091842del	NCBI36
NG_007974.1:g.5747_5777del , LRG_478:g.5747_5777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.446_476del (GP1BB) MANE Select	ENSP00000383382.2:p.Gly149AlafsTer?
ENST00000366425.3:c.446_476del (GP1BB)	ENSP00000383382.2:p.Gly149AlafsTer?
ENST00000431044.5:c.*1531_*1561del (SEPTIN5)	ENSP00000399685.1:n.*1531_*1561del
NM_000407.4:c.446_476del , LRG_478t1:c.446_476del (GP1BB)	NP_000398.1:p.Gly149AlafsTer?
NR_037611.1:n.4186_4216del
NR_037612.1:n.2690_2720del
NM_000407.5:c.446_476del (GP1BB) MANE Select	NP_000398.1:p.Gly149AlafsTer?