Canonical Allele Identifier: CA566703219

Gene: TULP1

Linked Data

• dbSNP Id: rs1209553787
• gnomAD v2: 6-35467968-TAGAGATGGCTG-T
• gnomAD v4: 6-35500191-TAGAGATGGCTG-T
• MyVariant Identifiers: chr6:g.35467969_35467979del (hg19) ; chr6:g.35500192_35500202del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500195_35500205del , CM000668.2:g.35500195_35500205del	GRCh38
NC_000006.11:g.35467972_35467982del , CM000668.1:g.35467972_35467982del	GRCh37
NC_000006.10:g.35575950_35575960del	NCBI36
NG_009077.1:g.17669_17679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1324-50_1324-40del MANE Select	ENSP00000229771.6:n.1324-50_1324-40del
ENST00000229771.10:c.1324-50_1324-40del	ENSP00000229771.6:n.1324-50_1324-40del
ENST00000322263.8:c.1165-50_1165-40del	ENSP00000319414.4:n.1165-50_1165-40del
ENST00000495781.1:n.500-50_500-40del
ENST00000614066.4:c.1318-50_1318-40del	ENSP00000477534.1:n.1318-50_1318-40del
NM_001289395.1:c.1165-50_1165-40del	NP_001276324.1:n.1165-50_1165-40del
NM_003322.4:c.1324-50_1324-40del	NP_003313.3:n.1324-50_1324-40del
NM_003322.5:c.1324-50_1324-40del	NP_003313.3:n.1324-50_1324-40del
NM_003322.6:c.1324-50_1324-40del MANE Select	NP_003313.3:n.1324-50_1324-40del
NM_001289395.2:c.1165-50_1165-40del	NP_001276324.1:n.1165-50_1165-40del