Canonical Allele Identifier: CA640357827

Gene: TYMP

Linked Data

• dbSNP Id: rs1160749181
• gnomAD v2: 22-50966065-C-CAT
• gnomAD v4: 22-50527636-C-CAT
• MyVariant Identifiers: chr22:g.50966065_50966066insAT (hg19) ; chr22:g.50527636_50527637insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50527640_50527641dup , CM000684.2:g.50527640_50527641dup	GRCh38
NC_000022.10:g.50966069_50966070dup , CM000684.1:g.50966069_50966070dup	GRCh37
NC_000022.9:g.49312935_49312936dup	NCBI36
NG_011860.1:g.7448_7449dup , LRG_727:g.7448_7449dup
NG_016235.1:g.3802_3803dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.596_597dup MANE Select	ENSP00000252029.3:p.Ala200MetfsTer6
ENST00000395680.6:c.596_597dup	ENSP00000379037.1:p.Ala200MetfsTer6
ENST00000395681.6:c.596_597dup	ENSP00000379038.1:p.Ala200MetfsTer6
ENST00000650719.1:c.596_597dup	ENSP00000498276.1:p.Ala200MetfsTer6
ENST00000651401.1:c.80_81dup	ENSP00000499115.1:p.Ala28MetfsTer6
ENST00000651906.1:n.715_716dup
ENST00000652352.1:c.307_308dup	ENSP00000498579.1:p.Met103IlefsTer23
ENST00000652401.1:c.52_53dup
ENST00000252029.7:c.596_597dup	ENSP00000252029.3:p.Ala200MetfsTer6
ENST00000395678.7:c.596_597dup	ENSP00000379036.3:p.Ala200MetfsTer6
ENST00000395680.5:c.596_597dup	ENSP00000379037.1:p.Ala200MetfsTer6
ENST00000395681.5:c.596_597dup	ENSP00000379038.1:p.Ala200MetfsTer6
ENST00000425169.1:c.497_498dup	ENSP00000395875.1:p.Ala167MetfsTer6
ENST00000476284.1:n.721_722dup
ENST00000487577.5:n.883_884dup
NM_001113755.2:c.596_597dup	NP_001107227.1:p.Ala200MetfsTer6
NM_001113756.2:c.596_597dup	NP_001107228.1:p.Ala200MetfsTer6
NM_001257988.1:c.596_597dup , LRG_727t1:c.596_597dup	NP_001244917.1:p.Ala200MetfsTer6
NM_001257989.1:c.596_597dup , LRG_727t2:c.596_597dup	NP_001244918.1:p.Ala200MetfsTer6
NM_001953.4:c.596_597dup	NP_001944.1:p.Ala200MetfsTer6
NM_001113755.3:c.596_597dup	NP_001107227.1:p.Ala200MetfsTer6
NM_001113756.3:c.596_597dup	NP_001107228.1:p.Ala200MetfsTer6
NM_001953.5:c.596_597dup MANE Select	NP_001944.1:p.Ala200MetfsTer6