Canonical Allele Identifier: CA983857165

Gene: TUBG1 RETREG3

Linked Data

• gnomAD v3: 17-42610296-ACC-A
• gnomAD v4: 17-42610296-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42610299_42610300del , CM000679.2:g.42610299_42610300del	GRCh38
NC_000017.10:g.40762317_40762318del , CM000679.1:g.40762317_40762318del	GRCh37
NC_000017.9:g.38015843_38015844del	NCBI36
NG_033886.1:g.5960_5961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251413.8:c.162+79_162+80del (TUBG1) MANE Select	ENSP00000251413.2:n.162+79_162+80del
ENST00000588056.2:n.229+79_229+80del (TUBG1)
ENST00000589688.2:c.162+79_162+80del (TUBG1)	ENSP00000465582.1:n.162+79_162+80del
ENST00000680617.1:n.165+79_165+80del (TUBG1)
ENST00000680672.1:n.259+79_259+80del (TUBG1)
ENST00000680678.1:n.259+79_259+80del (TUBG1)
ENST00000681114.1:n.165+79_165+80del (TUBG1)
ENST00000681413.1:c.162+79_162+80del (TUBG1)	ENSP00000505664.1:n.162+79_162+80del
ENST00000681490.1:n.259+79_259+80del (TUBG1)
ENST00000681919.1:n.165+79_165+80del (TUBG1)
ENST00000681947.1:n.259+79_259+80del (TUBG1)
ENST00000251413.7:c.162+79_162+80del (TUBG1)	ENSP00000251413.2:n.162+79_162+80del
ENST00000585894.5:c.-53+239_-53+240del (RETREG3)	ENSP00000467847.1:n.-53+239_-53+240del
ENST00000588056.1:n.214+79_214+80del (TUBG1)
ENST00000588423.1:c.-166+239_-166+240del (RETREG3)	ENSP00000467332.1:n.-166+239_-166+240del
ENST00000589613.1:n.72-124_72-123del (TUBG1)
ENST00000589688.1:c.162+79_162+80del (TUBG1)	ENSP00000465582.1:n.162+79_162+80del
ENST00000591509.5:c.162+79_162+80del (TUBG1)	ENSP00000464867.1:n.162+79_162+80del
ENST00000591547.5:c.-148+239_-148+240del (RETREG3)	ENSP00000465016.1:n.-148+239_-148+240del
NM_001070.4:c.162+79_162+80del (TUBG1)	NP_001061.2:n.162+79_162+80del
XM_024450904.1:c.162+79_162+80del (TUBG1)	XP_024306672.1:n.162+79_162+80del
NM_001070.5:c.162+79_162+80del (TUBG1) MANE Select	NP_001061.2:n.162+79_162+80del