Canonical Allele Identifier: CA2733742934
Gene: TUBG1 HGNC NCBI
RETREG3 HGNC NCBI

Linked Data

dbSNP Id: rs2143448130

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42610314del , CM000679.2:g.42610314del GRCh38
NC_000017.10:g.40762332del , CM000679.1:g.40762332del GRCh37
NC_000017.9:g.38015858del NCBI36
NG_033886.1:g.5975del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251413.8:c.162+94del (TUBG1) MANE Select ENSP00000251413.2:n.162+94del
ENST00000588056.2:n.229+94del (TUBG1)
ENST00000589688.2:c.162+94del (TUBG1) ENSP00000465582.1:n.162+94del
ENST00000680617.1:n.165+94del (TUBG1)
ENST00000680672.1:n.259+94del (TUBG1)
ENST00000680678.1:n.259+94del (TUBG1)
ENST00000681114.1:n.165+94del (TUBG1)
ENST00000681413.1:c.162+94del (TUBG1) ENSP00000505664.1:n.162+94del
ENST00000681490.1:n.259+94del (TUBG1)
ENST00000681919.1:n.165+94del (TUBG1)
ENST00000681947.1:n.259+94del (TUBG1)
ENST00000251413.7:c.162+94del (TUBG1) ENSP00000251413.2:n.162+94del
ENST00000585894.5:c.-53+225del (RETREG3) ENSP00000467847.1:n.-53+225del
ENST00000588056.1:n.214+94del (TUBG1)
ENST00000588423.1:c.-166+225del (RETREG3) ENSP00000467332.1:n.-166+225del
ENST00000589613.1:n.72-109del (TUBG1)
ENST00000589688.1:c.162+94del (TUBG1) ENSP00000465582.1:n.162+94del
ENST00000591509.5:c.162+94del (TUBG1) ENSP00000464867.1:n.162+94del
ENST00000591547.5:c.-148+225del (RETREG3) ENSP00000465016.1:n.-148+225del
NM_001070.4:c.162+94del (TUBG1) NP_001061.2:n.162+94del
XM_024450904.1:c.162+94del (TUBG1) XP_024306672.1:n.162+94del
NM_001070.5:c.162+94del (TUBG1) MANE Select NP_001061.2:n.162+94del