Canonical Allele Identifier: CA2637991732

Gene: TUBG1 RETREG3

Linked Data

• gnomAD v4: 17-42610442-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42610447dup , CM000679.2:g.42610447dup	GRCh38
NC_000017.10:g.40762465dup , CM000679.1:g.40762465dup	GRCh37
NC_000017.9:g.38015991dup	NCBI36
NG_033886.1:g.6108dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000251413.8:c.187dup (TUBG1) MANE Select	ENSP00000251413.2:p.Arg63ProfsTer?
ENST00000588056.2:n.254dup (TUBG1)
ENST00000589688.2:c.187dup (TUBG1)	ENSP00000465582.1:p.Arg63ProfsTer?
ENST00000680617.1:n.190dup (TUBG1)
ENST00000680672.1:n.284dup (TUBG1)
ENST00000680678.1:n.284dup (TUBG1)
ENST00000681114.1:n.190dup (TUBG1)
ENST00000681413.1:c.187dup (TUBG1)	ENSP00000505664.1:p.Arg63ProfsTer?
ENST00000681490.1:n.284dup (TUBG1)
ENST00000681919.1:n.190dup (TUBG1)
ENST00000681947.1:n.284dup (TUBG1)
ENST00000251413.7:c.187dup (TUBG1)	ENSP00000251413.2:p.Arg63ProfsTer?
ENST00000585894.5:c.-53+94dup (RETREG3)	ENSP00000467847.1:n.-53+94dup
ENST00000588056.1:n.239dup (TUBG1)
ENST00000588423.1:c.-166+94dup (RETREG3)	ENSP00000467332.1:n.-166+94dup
ENST00000589613.1:n.96dup (TUBG1)
ENST00000589688.1:c.187dup (TUBG1)	ENSP00000465582.1:p.Arg63ProfsTer?
ENST00000591509.5:c.187dup (TUBG1)	ENSP00000464867.1:p.Arg63ProfsTer?
ENST00000591547.5:c.-148+94dup (RETREG3)	ENSP00000465016.1:n.-148+94dup
NM_001070.4:c.187dup (TUBG1)	NP_001061.2:p.Arg63ProfsTer?
XM_024450904.1:c.187dup (TUBG1)	XP_024306672.1:p.Arg63ProfsTer?
NM_001070.5:c.187dup (TUBG1) MANE Select	NP_001061.2:p.Arg63ProfsTer?