Canonical Allele Identifier: CA110032855

Gene: TLL1

Linked Data

• dbSNP Id: rs577022043
• gnomAD v2: 4-166830338-C-CA
• gnomAD v3: 4-165909186-C-CA
• gnomAD v4: 4-165909186-C-CA
• MyVariant Identifiers: chr4:g.166830338_166830339insA (hg19) ; chr4:g.165909186_165909187insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.165909195dup , CM000666.2:g.165909195dup	GRCh38
NC_000004.11:g.166830347dup , CM000666.1:g.166830347dup	GRCh37
NC_000004.10:g.167049797dup	NCBI36
NG_016278.1:g.40938dup
NG_016278.2:g.40938dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000061240.7:c.169+35122dup MANE Select	ENSP00000061240.2:n.169+35122dup
ENST00000061240.6:c.169+35122dup	ENSP00000061240.2:n.169+35122dup
ENST00000504560.5:c.170-10639dup	ENSP00000421732.1:n.170-10639dup
ENST00000506144.1:c.-132+34143dup	ENSP00000423748.1:n.-132+34143dup
ENST00000507499.5:c.169+35122dup	ENSP00000426082.1:n.169+35122dup
ENST00000509505.5:c.169+35122dup	ENSP00000422692.1:n.169+35122dup
ENST00000513213.5:c.169+35122dup	ENSP00000422937.1:n.169+35122dup
NM_001204760.1:c.169+35122dup	NP_001191689.1:n.169+35122dup
NM_012464.4:c.169+35122dup	NP_036596.3:n.169+35122dup
XM_011532212.1:c.169+35122dup	XP_011530514.1:n.169+35122dup
XM_011532213.1:c.-84-10639dup	XP_011530515.1:n.-84-10639dup
XM_011532214.1:c.-398+35122dup	XP_011530516.1:n.-398+35122dup
XM_017008570.1:c.-84-10639dup	XP_016864059.1:n.-84-10639dup
XM_024454194.1:c.-132+36053dup	XP_024309962.1:n.-132+36053dup
NM_012464.5:c.169+35122dup MANE Select	NP_036596.3:n.169+35122dup
NM_001204760.2:c.169+35122dup	NP_001191689.1:n.169+35122dup