Canonical Allele Identifier: CA2840855585

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500049del , CM000668.2:g.35500049del	GRCh38
NC_000006.11:g.35467826del , CM000668.1:g.35467826del	GRCh37
NC_000006.10:g.35575804del	NCBI36
NG_009077.1:g.17824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1429del MANE Select	ENSP00000229771.6:p.Leu477SerfsTer?
ENST00000229771.10:c.1429del	ENSP00000229771.6:p.Leu477SerfsTer?
ENST00000322263.8:c.1270del	ENSP00000319414.4:p.Leu424SerfsTer?
ENST00000614066.4:c.1423del	ENSP00000477534.1:p.Leu475SerfsTer?
NM_001289395.1:c.1270del	NP_001276324.1:p.Leu424SerfsTer?
NM_003322.4:c.1429del	NP_003313.3:p.Leu477SerfsTer?
NM_003322.5:c.1429del	NP_003313.3:p.Leu477SerfsTer?
NM_003322.6:c.1429del MANE Select	NP_003313.3:p.Leu477SerfsTer?
NM_001289395.2:c.1270del	NP_001276324.1:p.Leu424SerfsTer?