Canonical Allele Identifier: CA2580099954

Gene: TYMP SCO2

Linked Data

• ClinVar Variation Id: 1995421
• ClinVar RCV Id: RCV002796575

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526113_50526151del , CM000684.2:g.50526113_50526151del	GRCh38
NC_000022.10:g.50964542_50964580del , CM000684.1:g.50964542_50964580del	GRCh37
NC_000022.9:g.49311408_49311446del	NCBI36
NG_011860.1:g.8937_8975del , LRG_727:g.8937_8975del
NG_016235.1:g.5291_5329del
NG_021419.1:g.22898_22936del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1160-8_1190del (TYMP)
ENST00000395680.6:c.1160-8_1190del (TYMP)
ENST00000395681.6:c.1167_1205del (TYMP)	ENSP00000379038.1:p.Pro390_Leu402del
ENST00000543927.6:c.-14+97_-14+135del (SCO2)	ENSP00000444433.1:n.-14+97_-14+135del
ENST00000651490.1:c.92+97_92+135del (TYMP)
ENST00000652401.1:c.661-8_691del (TYMP)
ENST00000252029.7:c.1160-8_1190del (TYMP)
ENST00000395678.7:c.1160-8_1190del (TYMP)
ENST00000395680.5:c.1160-8_1190del (TYMP)
ENST00000395681.5:c.1167_1205del (TYMP)	ENSP00000379038.1:p.Pro390_Leu402del
ENST00000423348.1:c.-14+97_-14+135del	ENSP00000403570.1:n.-14+97_-14+135del
ENST00000425169.1:c.1061-8_1091del (TYMP)
ENST00000476284.1:n.1262_1300del (TYMP)
ENST00000487577.5:n.1447-8_1477del (TYMP)
ENST00000543927.5:c.-14+97_-14+135del	ENSP00000444433.1:n.-14+97_-14+135del
NM_001113755.2:c.1160-8_1190del (TYMP)
NM_001113756.2:c.1160-8_1190del (TYMP)
NM_001169109.1:c.-14+97_-14+135del (SCO2)	NP_001162580.1:n.-14+97_-14+135del
NM_001257988.1:c.1160-8_1190del , LRG_727t1:c.1160-8_1190del (TYMP)
NM_001257989.1:c.1167_1205del , LRG_727t2:c.1167_1205del (TYMP)	NP_001244918.1:p.Pro390_Leu402del
NM_001953.4:c.1160-8_1190del (TYMP)
NM_001113755.3:c.1160-8_1190del (TYMP)
NM_001113756.3:c.1160-8_1190del (TYMP)
NM_001953.5:c.1160-8_1190del (TYMP)
NM_001169109.2:c.-14+97_-14+135del (SCO2)	NP_001162580.1:n.-14+97_-14+135del