Canonical Allele Identifier: CA556069290

Gene: TLL1

Linked Data

• dbSNP Id: rs1472105437
• gnomAD v2: 4-166930076-TAA-T
• gnomAD v3: 4-166008924-TAA-T
• gnomAD v4: 4-166008924-TAA-T
• MyVariant Identifiers: chr4:g.166930077_166930078del (hg19) ; chr4:g.166008925_166008926del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.166008928_166008929del , CM000666.2:g.166008928_166008929del	GRCh38
NC_000004.11:g.166930080_166930081del , CM000666.1:g.166930080_166930081del	GRCh37
NC_000004.10:g.167149530_167149531del	NCBI36
NG_016278.1:g.140671_140672del
NG_016278.2:g.140671_140672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000061240.7:c.917+880_917+881del MANE Select	ENSP00000061240.2:n.917+880_917+881del
ENST00000061240.6:c.917+880_917+881del	ENSP00000061240.2:n.917+880_917+881del
ENST00000507499.5:c.917+880_917+881del	ENSP00000426082.1:n.917+880_917+881del
ENST00000509505.5:c.*562+880_*562+881del	ENSP00000422692.1:n.*562+880_*562+881del
ENST00000513213.5:c.917+880_917+881del	ENSP00000422937.1:n.917+880_917+881del
NM_001204760.1:c.917+880_917+881del	NP_001191689.1:n.917+880_917+881del
NM_012464.4:c.917+880_917+881del	NP_036596.3:n.917+880_917+881del
XM_011532212.1:c.917+880_917+881del	XP_011530514.1:n.917+880_917+881del
XM_011532213.1:c.770+880_770+881del	XP_011530515.1:n.770+880_770+881del
XM_011532214.1:c.389+880_389+881del	XP_011530516.1:n.389+880_389+881del
XM_017008570.1:c.770+880_770+881del	XP_016864059.1:n.770+880_770+881del
XM_024454194.1:c.617+880_617+881del	XP_024309962.1:n.617+880_617+881del
XM_024454195.1:c.617+880_617+881del	XP_024309963.1:n.617+880_617+881del
NM_012464.5:c.917+880_917+881del MANE Select	NP_036596.3:n.917+880_917+881del
NM_001204760.2:c.917+880_917+881del	NP_001191689.1:n.917+880_917+881del