Canonical Allele Identifier: CA566703218

Gene: TULP1

Linked Data

• dbSNP Id: rs1252521787
• gnomAD v2: 6-35467964-CAGTT-C
• gnomAD v4: 6-35500187-CAGTT-C
• MyVariant Identifiers: chr6:g.35467965_35467968del (hg19) ; chr6:g.35500188_35500191del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500190_35500193del , CM000668.2:g.35500190_35500193del	GRCh38
NC_000006.11:g.35467967_35467970del , CM000668.1:g.35467967_35467970del	GRCh37
NC_000006.10:g.35575945_35575948del	NCBI36
NG_009077.1:g.17680_17683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1324-39_1324-36del MANE Select	ENSP00000229771.6:n.1324-39_1324-36del
ENST00000229771.10:c.1324-39_1324-36del	ENSP00000229771.6:n.1324-39_1324-36del
ENST00000322263.8:c.1165-39_1165-36del	ENSP00000319414.4:n.1165-39_1165-36del
ENST00000495781.1:n.500-39_500-36del
ENST00000614066.4:c.1318-39_1318-36del	ENSP00000477534.1:n.1318-39_1318-36del
NM_001289395.1:c.1165-39_1165-36del	NP_001276324.1:n.1165-39_1165-36del
NM_003322.4:c.1324-39_1324-36del	NP_003313.3:n.1324-39_1324-36del
NM_003322.5:c.1324-39_1324-36del	NP_003313.3:n.1324-39_1324-36del
NM_003322.6:c.1324-39_1324-36del MANE Select	NP_003313.3:n.1324-39_1324-36del
NM_001289395.2:c.1165-39_1165-36del	NP_001276324.1:n.1165-39_1165-36del