Canonical Allele Identifier: CA556069285

Gene: TLL1

Linked Data

• gnomAD v2: 4-166929966-TGCCCAC-T
• MyVariant Identifiers: chr4:g.166929967_166929972del (hg19) ; chr4:g.166008815_166008820del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.166008815_166008820del , CM000666.2:g.166008815_166008820del	GRCh38
NC_000004.11:g.166929967_166929972del , CM000666.1:g.166929967_166929972del	GRCh37
NC_000004.10:g.167149417_167149422del	NCBI36
NG_016278.1:g.140558_140563del
NG_016278.2:g.140558_140563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000061240.7:c.917+767_917+772del MANE Select	ENSP00000061240.2:n.917+767_917+772del
ENST00000061240.6:c.917+767_917+772del	ENSP00000061240.2:n.917+767_917+772del
ENST00000507499.5:c.917+767_917+772del	ENSP00000426082.1:n.917+767_917+772del
ENST00000509505.5:c.*562+767_*562+772del	ENSP00000422692.1:n.*562+767_*562+772del
ENST00000513213.5:c.917+767_917+772del	ENSP00000422937.1:n.917+767_917+772del
NM_001204760.1:c.917+767_917+772del	NP_001191689.1:n.917+767_917+772del
NM_012464.4:c.917+767_917+772del	NP_036596.3:n.917+767_917+772del
XM_011532212.1:c.917+767_917+772del	XP_011530514.1:n.917+767_917+772del
XM_011532213.1:c.770+767_770+772del	XP_011530515.1:n.770+767_770+772del
XM_011532214.1:c.389+767_389+772del	XP_011530516.1:n.389+767_389+772del
XM_017008570.1:c.770+767_770+772del	XP_016864059.1:n.770+767_770+772del
XM_024454194.1:c.617+767_617+772del	XP_024309962.1:n.617+767_617+772del
XM_024454195.1:c.617+767_617+772del	XP_024309963.1:n.617+767_617+772del
NM_012464.5:c.917+767_917+772del MANE Select	NP_036596.3:n.917+767_917+772del
NM_001204760.2:c.917+767_917+772del	NP_001191689.1:n.917+767_917+772del