Canonical Allele Identifier: CA1950233877

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615187_6615199delinsCATGGAATGGGCA , CM000673.2:g.6615187_6615199delinsCATGGAATGGGCA	GRCh38
NC_000011.9:g.6636418_6636430delinsCATGGAATGGGCA , CM000673.1:g.6636418_6636430delinsCATGGAATGGGCA	GRCh37
NC_000011.8:g.6592994_6593006delinsCATGGAATGGGCA	NCBI36
NG_008653.1:g.9263_9275delinsTGCCCATTCCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1283_1295delinsTGCCCATTCCATG	ENSP00000507321.1:p.Val428=
ENST00000299427.12:c.1397_1409delinsTGCCCATTCCATG MANE Select	ENSP00000299427.6:p.Val466=
ENST00000524611.2:n.257_269delinsTGCCCATTCCATG
ENST00000524924.2:n.517_529delinsTGCCCATTCCATG
ENST00000533371.6:c.668_680delinsTGCCCATTCCATG	ENSP00000437066.1:p.Val223=
ENST00000642892.1:c.668_680delinsTGCCCATTCCATG	ENSP00000494165.1:p.Val223=
ENST00000643342.1:c.470_482delinsTGCCCATTCCATG
ENST00000643439.1:c.*1137_*1149delinsTGCCCATTCCATG	ENSP00000495849.1:n.*1137_*1149delinsTGCCCATTCCATG
ENST00000643479.1:n.1583_1595delinsTGCCCATTCCATG
ENST00000643516.1:c.906_918delinsTGCCCATTCCATG
ENST00000644218.1:c.1208_1220delinsTGCCCATTCCATG	ENSP00000493574.1:p.Val403=
ENST00000644683.1:c.*850_*862delinsTGCCCATTCCATG	ENSP00000494085.1:n.*850_*862delinsTGCCCATTCCATG
ENST00000644810.1:c.1118_1130delinsTGCCCATTCCATG	ENSP00000495895.1:p.Val373=
ENST00000644831.1:n.1573_1585delinsTGCCCATTCCATG
ENST00000644933.1:c.*263_*275delinsTGCCCATTCCATG	ENSP00000496133.1:n.*263_*275delinsTGCCCATTCCATG
ENST00000645285.1:c.*263_*275delinsTGCCCATTCCATG	ENSP00000495058.1:n.*263_*275delinsTGCCCATTCCATG
ENST00000645331.1:n.2602_2614delinsTGCCCATTCCATG
ENST00000645620.1:c.668_680delinsTGCCCATTCCATG	ENSP00000493657.1:p.Val223=
ENST00000646691.1:n.1284_1296delinsTGCCCATTCCATG
ENST00000646777.1:n.1730_1742delinsTGCCCATTCCATG
ENST00000647016.1:n.1877_1889delinsTGCCCATTCCATG
ENST00000647152.1:c.668_680delinsTGCCCATTCCATG	ENSP00000495893.1:p.Val223=
ENST00000647209.1:c.*1266_*1278delinsTGCCCATTCCATG	ENSP00000495558.1:n.*1266_*1278delinsTGCCCATTCCATG
ENST00000647346.1:n.2417_2429delinsTGCCCATTCCATG
ENST00000299427.10:c.1397_1409delinsTGCCCATTCCATG	ENSP00000299427.6:p.Val466=
ENST00000524611.1:n.275_287delinsTGCCCATTCCATG
ENST00000533371.5:c.668_680delinsTGCCCATTCCATG	ENSP00000437066.1:p.Val223=
ENST00000611494.4:c.1397_1409delinsTGCCCATTCCATG	ENSP00000484546.1:p.Val466=
NM_000391.3:c.1397_1409delinsTGCCCATTCCATG	NP_000382.3:p.Val466=
NM_000391.4:c.1397_1409delinsTGCCCATTCCATG MANE Select	NP_000382.3:p.Val466=