Canonical Allele Identifier: CA2770629830

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500148_35500149insCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTACGCACCGCCGCTATCGCGCCGACGA , CM000668.2:g.35500148_35500149insCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTACGCACCGCCGCTATCGCGCCGACGA	GRCh38
NC_000006.11:g.35467925_35467926insCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTACGCACCGCCGCTATCGCGCCGACGA , CM000668.1:g.35467925_35467926insCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTACGCACCGCCGCTATCGCGCCGACGA	GRCh37
NC_000006.10:g.35575903_35575904insCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTACGCACCGCCGCTATCGCGCCGACGA	NCBI36
NG_009077.1:g.17722_17723insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1327_1328insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG MANE Select	ENSP00000229771.6:p.Ser443IlefsTer43
ENST00000229771.10:c.1327_1328insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG	ENSP00000229771.6:p.Ser443IlefsTer43
ENST00000322263.8:c.1168_1169insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG	ENSP00000319414.4:p.Ser390IlefsTer43
ENST00000495781.1:n.503_504insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG
ENST00000614066.4:c.1321_1322insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG	ENSP00000477534.1:p.Ser441IlefsTer43
NM_001289395.1:c.1168_1169insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG	NP_001276324.1:p.Ser390IlefsTer43
NM_003322.4:c.1327_1328insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG	NP_003313.3:p.Ser443IlefsTer43
NM_003322.5:c.1327_1328insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG	NP_003313.3:p.Ser443IlefsTer43
NM_003322.6:c.1327_1328insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG MANE Select	NP_003313.3:p.Ser443IlefsTer43
NM_001289395.2:c.1168_1169insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG	NP_001276324.1:p.Ser390IlefsTer43