Canonical Allele Identifier: CA602220494

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1240402739
• gnomAD v2: 11-121008011-GCA-G
• gnomAD v3: 11-121137302-GCA-G
• gnomAD v4: 11-121137302-GCA-G
• MyVariant Identifiers: chr11:g.121008012_121008013del (hg19) ; chr11:g.121137303_121137304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121137308_121137309del , CM000673.2:g.121137308_121137309del	GRCh38
NC_000011.9:g.121008017_121008018del , CM000673.1:g.121008017_121008018del	GRCh37
NC_000011.8:g.120513227_120513228del	NCBI36
NG_011633.1:g.39643_39644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.2942-113_2942-112del (TECTA) MANE Select	ENSP00000376543.1:n.2942-113_2942-112del
ENST00000642222.1:c.2942-113_2942-112del (TECTA)	ENSP00000493855.1:n.2942-113_2942-112del
ENST00000645008.1:c.249-113_249-112del (TECTA)
ENST00000264037.2:c.2942-113_2942-112del (TECTA)	ENSP00000264037.2:n.2942-113_2942-112del
ENST00000392793.5:c.2942-113_2942-112del (TECTA)	ENSP00000376543.1:n.2942-113_2942-112del
NM_005422.2:c.2942-113_2942-112del (TECTA)	NP_005413.2:n.2942-113_2942-112del
NM_001378761.1:c.3899-113_3899-112del (TBCEL-TECTA)	NP_001365690.1:n.3899-113_3899-112del
NM_005422.4:c.2942-113_2942-112del (TECTA) MANE Select	NP_005413.2:n.2942-113_2942-112del