Canonical Allele Identifier: CA2518996704

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500144_35500145insACAAAGCCCGCCA , CM000668.2:g.35500144_35500145insACAAAGCCCGCCA	GRCh38
NC_000006.11:g.35467921_35467922insACAAAGCCCGCCA , CM000668.1:g.35467921_35467922insACAAAGCCCGCCA	GRCh37
NC_000006.10:g.35575899_35575900insACAAAGCCCGCCA	NCBI36
NG_009077.1:g.17726_17727insTGGCGGGCTTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1331_1332insTGGCGGGCTTTGT MANE Select	ENSP00000229771.6:p.Leu446GlyfsTer30
ENST00000229771.10:c.1331_1332insTGGCGGGCTTTGT	ENSP00000229771.6:p.Leu446GlyfsTer30
ENST00000322263.8:c.1172_1173insTGGCGGGCTTTGT	ENSP00000319414.4:p.Leu393GlyfsTer30
ENST00000495781.1:n.507_508insTGGCGGGCTTTGT
ENST00000614066.4:c.1325_1326insTGGCGGGCTTTGT	ENSP00000477534.1:p.Leu444GlyfsTer30
NM_001289395.1:c.1172_1173insTGGCGGGCTTTGT	NP_001276324.1:p.Leu393GlyfsTer30
NM_003322.4:c.1331_1332insTGGCGGGCTTTGT	NP_003313.3:p.Leu446GlyfsTer30
NM_003322.5:c.1331_1332insTGGCGGGCTTTGT	NP_003313.3:p.Leu446GlyfsTer30
NM_003322.6:c.1331_1332insTGGCGGGCTTTGT MANE Select	NP_003313.3:p.Leu446GlyfsTer30
NM_001289395.2:c.1172_1173insTGGCGGGCTTTGT	NP_001276324.1:p.Leu393GlyfsTer30