Canonical Allele Identifier: CA754072492

Gene: TYMP SCO2

Linked Data

• dbSNP Id: rs1260661881
• MyVariant Identifiers: chr22:g.50964578_50964587del (hg19) ; chr22:g.50526149_50526158del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526155_50526164del , CM000684.2:g.50526155_50526164del	GRCh38
NC_000022.10:g.50964584_50964593del , CM000684.1:g.50964584_50964593del	GRCh37
NC_000022.9:g.49311450_49311459del	NCBI36
NG_011860.1:g.8928_8937del , LRG_727:g.8928_8937del
NG_016235.1:g.5282_5291del
NG_021419.1:g.22940_22949del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1160-17_1160-8del (TYMP) MANE Select	ENSP00000252029.3:n.1160-17_1160-8del
ENST00000395680.6:c.1160-17_1160-8del (TYMP)	ENSP00000379037.1:n.1160-17_1160-8del
ENST00000395681.6:c.1160-2_1167del (TYMP)
ENST00000543927.6:c.-14+88_-14+97del (SCO2)	ENSP00000444433.1:n.-14+88_-14+97del
ENST00000651490.1:c.92+88_92+97del (TYMP)
ENST00000652401.1:c.661-17_661-8del (TYMP)
ENST00000252029.7:c.1160-17_1160-8del (TYMP)	ENSP00000252029.3:n.1160-17_1160-8del
ENST00000395678.7:c.1160-17_1160-8del (TYMP)	ENSP00000379036.3:n.1160-17_1160-8del
ENST00000395680.5:c.1160-17_1160-8del (TYMP)	ENSP00000379037.1:n.1160-17_1160-8del
ENST00000395681.5:c.1160-2_1167del (TYMP)
ENST00000423348.1:c.-14+88_-14+97del	ENSP00000403570.1:n.-14+88_-14+97del
ENST00000425169.1:c.1061-17_1061-8del (TYMP)	ENSP00000395875.1:n.1061-17_1061-8del
ENST00000476284.1:n.1253_1262del (TYMP)
ENST00000487577.5:n.1447-17_1447-8del (TYMP)
ENST00000543927.5:c.-14+88_-14+97del	ENSP00000444433.1:n.-14+88_-14+97del
NM_001113755.2:c.1160-17_1160-8del (TYMP)	NP_001107227.1:n.1160-17_1160-8del
NM_001113756.2:c.1160-17_1160-8del (TYMP)	NP_001107228.1:n.1160-17_1160-8del
NM_001169109.1:c.-14+88_-14+97del (SCO2)	NP_001162580.1:n.-14+88_-14+97del
NM_001257988.1:c.1160-17_1160-8del , LRG_727t1:c.1160-17_1160-8del (TYMP)	NP_001244917.1:n.1160-17_1160-8del
NM_001257989.1:c.1160-2_1167del , LRG_727t2:c.1160-2_1167del (TYMP)
NM_001953.4:c.1160-17_1160-8del (TYMP)	NP_001944.1:n.1160-17_1160-8del
NM_001113755.3:c.1160-17_1160-8del (TYMP)	NP_001107227.1:n.1160-17_1160-8del
NM_001113756.3:c.1160-17_1160-8del (TYMP)	NP_001107228.1:n.1160-17_1160-8del
NM_001953.5:c.1160-17_1160-8del (TYMP) MANE Select	NP_001944.1:n.1160-17_1160-8del
NM_001169109.2:c.-14+88_-14+97del (SCO2)	NP_001162580.1:n.-14+88_-14+97del