Canonical Allele Identifier: CA2678414329

Gene: TULP1

Linked Data

• gnomAD v4: 6-35500237-GCATGTGTGCACAGGGGTGTGGCCTGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500241_35500267del , CM000668.2:g.35500241_35500267del	GRCh38
NC_000006.11:g.35468018_35468044del , CM000668.1:g.35468018_35468044del	GRCh37
NC_000006.10:g.35575996_35576022del	NCBI36
NG_009077.1:g.17607_17633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1324-112_1324-86del MANE Select	ENSP00000229771.6:n.1324-112_1324-86del
ENST00000229771.10:c.1324-112_1324-86del	ENSP00000229771.6:n.1324-112_1324-86del
ENST00000322263.8:c.1165-112_1165-86del	ENSP00000319414.4:n.1165-112_1165-86del
ENST00000495781.1:n.500-112_500-86del
ENST00000614066.4:c.1318-112_1318-86del	ENSP00000477534.1:n.1318-112_1318-86del
NM_001289395.1:c.1165-112_1165-86del	NP_001276324.1:n.1165-112_1165-86del
NM_003322.4:c.1324-112_1324-86del	NP_003313.3:n.1324-112_1324-86del
NM_003322.5:c.1324-112_1324-86del	NP_003313.3:n.1324-112_1324-86del
NM_003322.6:c.1324-112_1324-86del MANE Select	NP_003313.3:n.1324-112_1324-86del
NM_001289395.2:c.1165-112_1165-86del	NP_001276324.1:n.1165-112_1165-86del