Canonical Allele Identifier: CA2655305546

Gene: GP1BB SEPTIN5

Linked Data

• gnomAD v4: 22-19724410-GCTGTCGCTGACCGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19724412_19724425del , CM000684.2:g.19724412_19724425del	GRCh38
NC_000022.10:g.19711935_19711948del , CM000684.1:g.19711935_19711948del	GRCh37
NC_000022.9:g.18091935_18091948del	NCBI36
NG_007974.1:g.5870_5883del , LRG_478:g.5870_5883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366425.4:c.569_582del (GP1BB) MANE Select	ENSP00000383382.2:p.Leu190ProfsTer?
ENST00000366425.3:c.569_582del (GP1BB)	ENSP00000383382.2:p.Leu190ProfsTer?
ENST00000431044.5:c.*1654_*1667del (SEPTIN5)	ENSP00000399685.1:n.*1654_*1667del
NM_000407.4:c.569_582del , LRG_478t1:c.569_582del (GP1BB)	NP_000398.1:p.Leu190ProfsTer?
NR_037611.1:n.4309_4322del
NR_037612.1:n.2813_2826del
NM_000407.5:c.569_582del (GP1BB) MANE Select	NP_000398.1:p.Leu190ProfsTer?