Canonical Allele Identifier: CA2741725259

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50525951del , CM000684.2:g.50525951del GRCh38
NC_000022.10:g.50964380del , CM000684.1:g.50964380del GRCh37
NC_000022.9:g.49311246del NCBI36
NG_011860.1:g.9136del , LRG_727:g.9136del
NG_016235.1:g.5490del
NG_021419.1:g.22736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.1301-32del (TYMP) MANE Select ENSP00000252029.3:n.1301-32del
ENST00000395680.6:c.1301-32del (TYMP) ENSP00000379037.1:n.1301-32del
ENST00000395681.6:c.1316-32del (TYMP) ENSP00000379038.1:n.1316-32del
ENST00000543927.6:c.-14+296del (SCO2) ENSP00000444433.1:n.-14+296del
ENST00000638598.2:c.-14+51del (SCO2) ENSP00000491753.2:n.-14+51del
ENST00000651490.1:c.93-32del (TYMP)
ENST00000652401.1:c.802-32del (TYMP)
ENST00000252029.7:c.1301-32del (TYMP) ENSP00000252029.3:n.1301-32del
ENST00000395678.7:c.1301-32del (TYMP) ENSP00000379036.3:n.1301-32del
ENST00000395680.5:c.1301-32del (TYMP) ENSP00000379037.1:n.1301-32del
ENST00000395681.5:c.1316-32del (TYMP) ENSP00000379038.1:n.1316-32del
ENST00000423348.1:c.-14+296del ENSP00000403570.1:n.-14+296del
ENST00000425169.1:c.1202-32del (TYMP) ENSP00000395875.1:n.1202-32del
ENST00000439934.5:c.-14+51del ENSP00000415642.1:n.-14+51del
ENST00000476284.1:n.1411-32del (TYMP)
ENST00000487577.5:n.1588-32del (TYMP)
ENST00000535425.5:c.-14+51del ENSP00000444242.1:n.-14+51del
ENST00000543927.5:c.-14+296del ENSP00000444433.1:n.-14+296del
NM_001113755.2:c.1301-32del (TYMP) NP_001107227.1:n.1301-32del
NM_001113756.2:c.1301-32del (TYMP) NP_001107228.1:n.1301-32del
NM_001169109.1:c.-14+296del (SCO2) NP_001162580.1:n.-14+296del
NM_001169110.1:c.-14+51del (SCO2) NP_001162581.1:n.-14+51del
NM_001257988.1:c.1301-32del , LRG_727t1:c.1301-32del (TYMP) NP_001244917.1:n.1301-32del
NM_001257989.1:c.1316-32del , LRG_727t2:c.1316-32del (TYMP) NP_001244918.1:n.1316-32del
NM_001953.4:c.1301-32del (TYMP) NP_001944.1:n.1301-32del
NM_001113755.3:c.1301-32del (TYMP) NP_001107227.1:n.1301-32del
NM_001113756.3:c.1301-32del (TYMP) NP_001107228.1:n.1301-32del
NM_001953.5:c.1301-32del (TYMP) MANE Select NP_001944.1:n.1301-32del
NM_001169109.2:c.-14+296del (SCO2) NP_001162580.1:n.-14+296del