Canonical Allele Identifier: CA110044318

Gene: TLL1

Linked Data

• dbSNP Id: rs1010911110
• gnomAD v2: 4-166929959-T-TC
• gnomAD v3: 4-166008807-T-TC
• gnomAD v4: 4-166008807-T-TC
• MyVariant Identifiers: chr4:g.166929959_166929960insC (hg19) ; chr4:g.166008807_166008808insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.166008807_166008808insC , CM000666.2:g.166008807_166008808insC	GRCh38
NC_000004.11:g.166929959_166929960insC , CM000666.1:g.166929959_166929960insC	GRCh37
NC_000004.10:g.167149409_167149410insC	NCBI36
NG_016278.1:g.140550_140551insC
NG_016278.2:g.140550_140551insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000061240.7:c.917+759_917+760insC MANE Select	ENSP00000061240.2:n.917+759_917+760insC
ENST00000061240.6:c.917+759_917+760insC	ENSP00000061240.2:n.917+759_917+760insC
ENST00000507499.5:c.917+759_917+760insC	ENSP00000426082.1:n.917+759_917+760insC
ENST00000509505.5:c.*562+759_*562+760insC	ENSP00000422692.1:n.*562+759_*562+760insC
ENST00000513213.5:c.917+759_917+760insC	ENSP00000422937.1:n.917+759_917+760insC
NM_001204760.1:c.917+759_917+760insC	NP_001191689.1:n.917+759_917+760insC
NM_012464.4:c.917+759_917+760insC	NP_036596.3:n.917+759_917+760insC
XM_011532212.1:c.917+759_917+760insC	XP_011530514.1:n.917+759_917+760insC
XM_011532213.1:c.770+759_770+760insC	XP_011530515.1:n.770+759_770+760insC
XM_011532214.1:c.389+759_389+760insC	XP_011530516.1:n.389+759_389+760insC
XM_017008570.1:c.770+759_770+760insC	XP_016864059.1:n.770+759_770+760insC
XM_024454194.1:c.617+759_617+760insC	XP_024309962.1:n.617+759_617+760insC
XM_024454195.1:c.617+759_617+760insC	XP_024309963.1:n.617+759_617+760insC
NM_012464.5:c.917+759_917+760insC MANE Select	NP_036596.3:n.917+759_917+760insC
NM_001204760.2:c.917+759_917+760insC	NP_001191689.1:n.917+759_917+760insC