Canonical Allele Identifier: CA2793889923

Gene: TECTA TBCEL-TECTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162485_121162486insGAGAGGACCAGT , CM000673.2:g.121162485_121162486insGAGAGGACCAGT	GRCh38
NC_000011.9:g.121033194_121033195insGAGAGGACCAGT , CM000673.1:g.121033194_121033195insGAGAGGACCAGT	GRCh37
NC_000011.8:g.120538404_120538405insGAGAGGACCAGT	NCBI36
NG_011633.1:g.64820_64821insGAGAGGACCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5272+115_5272+116insGAGAGGACCAGT (TECTA) MANE Select	ENSP00000376543.1:n.5272+115_5272+116insGAGAGGACCAGT
ENST00000642222.1:c.5257+115_5257+116insGAGAGGACCAGT (TECTA)	ENSP00000493855.1:n.5257+115_5257+116insGAGAGGACCAGT
ENST00000645008.1:c.2564+115_2564+116insGAGAGGACCAGT (TECTA)
ENST00000646278.1:n.1193+115_1193+116insGAGAGGACCAGT (TECTA)
ENST00000264037.2:c.5272+115_5272+116insGAGAGGACCAGT (TECTA)	ENSP00000264037.2:n.5272+115_5272+116insGAGAGGACCAGT
ENST00000392793.5:c.5272+115_5272+116insGAGAGGACCAGT (TECTA)	ENSP00000376543.1:n.5272+115_5272+116insGAGAGGACCAGT
NM_005422.2:c.5272+115_5272+116insGAGAGGACCAGT (TECTA)	NP_005413.2:n.5272+115_5272+116insGAGAGGACCAGT
NM_001378761.1:c.6214+115_6214+116insGAGAGGACCAGT (TBCEL-TECTA)	NP_001365690.1:n.6214+115_6214+116insGAGAGGACCAGT
NM_005422.4:c.5272+115_5272+116insGAGAGGACCAGT (TECTA) MANE Select	NP_005413.2:n.5272+115_5272+116insGAGAGGACCAGT