Canonical Allele Identifier: CA754072750

Gene: TYMP SCO2

Linked Data

• dbSNP Id: rs1238901899
• gnomAD v3: 22-50526402-CCAGCGCCGCGGCCACCCGGG-C
• gnomAD v4: 22-50526402-CCAGCGCCGCGGCCACCCGGG-C
• MyVariant Identifiers: chr22:g.50964832_50964851del (hg19) ; chr22:g.50526403_50526422del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526410_50526429del , CM000684.2:g.50526410_50526429del	GRCh38
NC_000022.10:g.50964839_50964858del , CM000684.1:g.50964839_50964858del	GRCh37
NC_000022.9:g.49311705_49311724del	NCBI36
NG_011860.1:g.8664_8683del , LRG_727:g.8664_8683del
NG_016235.1:g.5018_5037del
NG_021419.1:g.23195_23214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.983_1002del (TYMP) MANE Select	ENSP00000252029.3:p.Ala328GlyfsTer?
ENST00000395680.6:c.983_1002del (TYMP)	ENSP00000379037.1:p.Ala328GlyfsTer?
ENST00000395681.6:c.983_1002del (TYMP)	ENSP00000379038.1:p.Ala328GlyfsTer?
ENST00000543927.6:c.-190_-171del (SCO2)	ENSP00000444433.1:n.-190_-171del
ENST00000650719.1:c.864_883del (TYMP)	ENSP00000498276.1:p.Cys288TrpfsTer?
ENST00000651401.1:c.467_486del (TYMP)	ENSP00000499115.1:p.Ala156GlyfsTer?
ENST00000652401.1:c.484_503del (TYMP)
ENST00000252029.7:c.983_1002del (TYMP)	ENSP00000252029.3:p.Ala328GlyfsTer?
ENST00000395678.7:c.983_1002del (TYMP)	ENSP00000379036.3:p.Ala328GlyfsTer?
ENST00000395680.5:c.983_1002del (TYMP)	ENSP00000379037.1:p.Ala328GlyfsTer?
ENST00000395681.5:c.983_1002del (TYMP)	ENSP00000379038.1:p.Ala328GlyfsTer?
ENST00000423348.1:c.-190_-171del	ENSP00000403570.1:n.-190_-171del
ENST00000425169.1:c.884_903del (TYMP)	ENSP00000395875.1:p.Ala295GlyfsTer?
ENST00000476284.1:n.989_1008del (TYMP)
ENST00000487577.5:n.1270_1289del (TYMP)
ENST00000543927.5:c.-190_-171del	ENSP00000444433.1:n.-190_-171del
NM_001113755.2:c.983_1002del (TYMP)	NP_001107227.1:p.Ala328GlyfsTer?
NM_001113756.2:c.983_1002del (TYMP)	NP_001107228.1:p.Ala328GlyfsTer?
NM_001169109.1:c.-190_-171del (SCO2)	NP_001162580.1:n.-190_-171del
NM_001257988.1:c.983_1002del , LRG_727t1:c.983_1002del (TYMP)	NP_001244917.1:p.Ala328GlyfsTer?
NM_001257989.1:c.983_1002del , LRG_727t2:c.983_1002del (TYMP)	NP_001244918.1:p.Ala328GlyfsTer?
NM_001953.4:c.983_1002del (TYMP)	NP_001944.1:p.Ala328GlyfsTer?
NM_001113755.3:c.983_1002del (TYMP)	NP_001107227.1:p.Ala328GlyfsTer?
NM_001113756.3:c.983_1002del (TYMP)	NP_001107228.1:p.Ala328GlyfsTer?
NM_001953.5:c.983_1002del (TYMP) MANE Select	NP_001944.1:p.Ala328GlyfsTer?
NM_001169109.2:c.-190_-171del (SCO2)	NP_001162580.1:n.-190_-171del