Canonical Allele Identifier: CA10602945

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35506160del , CM000668.2:g.35506160del	GRCh38
NC_000006.11:g.35473937del , CM000668.1:g.35473937del	GRCh37
NC_000006.10:g.35581915del	NCBI36
NG_009077.1:g.11714del

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.845del MANE Select	NP_003313.3:p.Pro282ArgfsTer28
ENST00000229771.11:c.845del MANE Select	ENSP00000229771.6:p.Pro282ArgfsTer28
NM_001289395.1:c.686del	NP_001276324.1:p.Pro229ArgfsTer28
NM_001289395.2:c.686del	NP_001276324.1:p.Pro229ArgfsTer28
NM_003322.4:c.845del	NP_003313.3:p.Pro282ArgfsTer28
NM_003322.5:c.845del	NP_003313.3:p.Pro282ArgfsTer28
ENST00000229771.10:c.845del	ENSP00000229771.6:p.Pro282ArgfsTer28
ENST00000322263.8:c.686del	ENSP00000319414.4:p.Pro229ArgfsTer28
ENST00000373892.4:n.447del
ENST00000614066.4:c.839del	ENSP00000477534.1:p.Pro280ArgfsTer28