Canonical Allele Identifier: CA556069281

Gene: TLL1

Linked Data

• dbSNP Id: rs34689194
• gnomAD v2: 4-166929954-CTT-C
• gnomAD v3: 4-166008802-CTT-C
• gnomAD v4: 4-166008802-CTT-C
• MyVariant Identifiers: chr4:g.166929956_166929957del (hg19) ; chr4:g.166008804_166008805del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.166008813_166008814del , CM000666.2:g.166008813_166008814del	GRCh38
NC_000004.11:g.166929965_166929966del , CM000666.1:g.166929965_166929966del	GRCh37
NC_000004.10:g.167149415_167149416del	NCBI36
NG_016278.1:g.140556_140557del
NG_016278.2:g.140556_140557del

Transcript Alleles

HGVS	Amino-acid change
ENST00000061240.7:c.917+765_917+766del MANE Select	ENSP00000061240.2:n.917+765_917+766del
ENST00000061240.6:c.917+765_917+766del	ENSP00000061240.2:n.917+765_917+766del
ENST00000507499.5:c.917+765_917+766del	ENSP00000426082.1:n.917+765_917+766del
ENST00000509505.5:c.*562+765_*562+766del	ENSP00000422692.1:n.*562+765_*562+766del
ENST00000513213.5:c.917+765_917+766del	ENSP00000422937.1:n.917+765_917+766del
NM_001204760.1:c.917+765_917+766del	NP_001191689.1:n.917+765_917+766del
NM_012464.4:c.917+765_917+766del	NP_036596.3:n.917+765_917+766del
XM_011532212.1:c.917+765_917+766del	XP_011530514.1:n.917+765_917+766del
XM_011532213.1:c.770+765_770+766del	XP_011530515.1:n.770+765_770+766del
XM_011532214.1:c.389+765_389+766del	XP_011530516.1:n.389+765_389+766del
XM_017008570.1:c.770+765_770+766del	XP_016864059.1:n.770+765_770+766del
XM_024454194.1:c.617+765_617+766del	XP_024309962.1:n.617+765_617+766del
XM_024454195.1:c.617+765_617+766del	XP_024309963.1:n.617+765_617+766del
NM_012464.5:c.917+765_917+766del MANE Select	NP_036596.3:n.917+765_917+766del
NM_001204760.2:c.917+765_917+766del	NP_001191689.1:n.917+765_917+766del