Canonical Allele Identifier: CA730462449

Gene: RAB29

Linked Data

• dbSNP Id: rs1358040697
• gnomAD v3: 1-205775339-CCAGATGATGGGGA-C
• gnomAD v4: 1-205775339-CCAGATGATGGGGA-C
• MyVariant Identifiers: chr1:g.205744468_205744480del (hg19) ; chr1:g.205775340_205775352del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205775341_205775353del , CM000663.2:g.205775341_205775353del	GRCh38
NC_000001.10:g.205744469_205744481del , CM000663.1:g.205744469_205744481del	GRCh37
NC_000001.9:g.204011092_204011104del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367139.8:c.-210_-198del MANE Select	ENSP00000356107.3:n.-210_-198del
ENST00000235932.8:c.-131+22_-131+34del	ENSP00000235932.4:n.-131+22_-131+34del
ENST00000367139.7:c.-210_-198del	ENSP00000356107.3:n.-210_-198del
ENST00000414729.1:c.-396_-384del	ENSP00000402910.1:n.-396_-384del
ENST00000437324.6:c.-172_-160del	ENSP00000416613.2:n.-172_-160del
ENST00000468887.1:n.89_101del
ENST00000528078.1:c.-210_-198del	ENSP00000431483.1:n.-210_-198del
NM_001135662.1:c.-131+22_-131+34del	NP_001129134.1:n.-131+22_-131+34del
NM_001135663.1:c.-396_-384del	NP_001129135.1:n.-396_-384del
NM_001135664.1:c.-172_-160del	NP_001129136.1:n.-172_-160del
NM_003929.2:c.-210_-198del	NP_003920.1:n.-210_-198del
XM_005245569.1:c.-136+22_-136+34del	XP_005245626.1:n.-136+22_-136+34del
XM_005245570.1:c.-215_-203del	XP_005245627.1:n.-215_-203del
XM_005245571.1:c.-131+50_-131+62del	XP_005245628.1:n.-131+50_-131+62del
XM_006711605.2:c.-93+22_-93+34del	XP_006711668.1:n.-93+22_-93+34del
XM_006711606.1:c.-93+50_-93+62del	XP_006711669.1:n.-93+50_-93+62del
XM_006711605.3:c.-93+22_-93+34del	XP_006711668.1:n.-93+22_-93+34del
XM_006711606.3:c.-93+50_-93+62del	XP_006711669.1:n.-93+50_-93+62del
XM_017002748.1:c.-210_-198del	XP_016858237.1:n.-210_-198del
XM_017002749.1:c.-215_-203del	XP_016858238.1:n.-215_-203del
XM_017002750.1:c.-131+22_-131+34del	XP_016858239.1:n.-131+22_-131+34del
NM_003929.3:c.-210_-198del MANE Select	NP_003920.1:n.-210_-198del
NM_001135662.2:c.-131+22_-131+34del	NP_001129134.1:n.-131+22_-131+34del
NM_001135663.2:c.-396_-384del	NP_001129135.1:n.-396_-384del
NM_001135664.2:c.-172_-160del	NP_001129136.1:n.-172_-160del