Canonical Allele Identifier: CA2580650623

Gene: RAB29

Linked Data

• dbSNP Id: rs2102489240
• gnomAD v3: 1-205775313-CCA-C
• gnomAD v4: 1-205775313-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205775314_205775315del , CM000663.2:g.205775314_205775315del	GRCh38
NC_000001.10:g.205744442_205744443del , CM000663.1:g.205744442_205744443del	GRCh37
NC_000001.9:g.204011065_204011066del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367139.8:c.-173_-172del MANE Select	ENSP00000356107.3:n.-173_-172del
ENST00000235932.8:c.-131+59_-131+60del	ENSP00000235932.4:n.-131+59_-131+60del
ENST00000367139.7:c.-173_-172del	ENSP00000356107.3:n.-173_-172del
ENST00000414729.1:c.-359_-358del	ENSP00000402910.1:n.-359_-358del
ENST00000437324.6:c.-135_-134del	ENSP00000416613.2:n.-135_-134del
ENST00000468887.1:n.126_127del
ENST00000528078.1:c.-173_-172del	ENSP00000431483.1:n.-173_-172del
NM_001135662.1:c.-131+59_-131+60del	NP_001129134.1:n.-131+59_-131+60del
NM_001135663.1:c.-359_-358del	NP_001129135.1:n.-359_-358del
NM_001135664.1:c.-135_-134del	NP_001129136.1:n.-135_-134del
NM_003929.2:c.-173_-172del	NP_003920.1:n.-173_-172del
XM_005245569.1:c.-136+59_-136+60del	XP_005245626.1:n.-136+59_-136+60del
XM_005245570.1:c.-178_-177del	XP_005245627.1:n.-178_-177del
XM_005245571.1:c.-131+87_-131+88del	XP_005245628.1:n.-131+87_-131+88del
XM_006711605.2:c.-93+59_-93+60del	XP_006711668.1:n.-93+59_-93+60del
XM_006711606.1:c.-93+87_-93+88del	XP_006711669.1:n.-93+87_-93+88del
XM_006711605.3:c.-93+59_-93+60del	XP_006711668.1:n.-93+59_-93+60del
XM_006711606.3:c.-93+87_-93+88del	XP_006711669.1:n.-93+87_-93+88del
XM_017002748.1:c.-173_-172del	XP_016858237.1:n.-173_-172del
XM_017002749.1:c.-178_-177del	XP_016858238.1:n.-178_-177del
XM_017002750.1:c.-131+59_-131+60del	XP_016858239.1:n.-131+59_-131+60del
NM_003929.3:c.-173_-172del MANE Select	NP_003920.1:n.-173_-172del
NM_001135662.2:c.-131+59_-131+60del	NP_001129134.1:n.-131+59_-131+60del
NM_001135663.2:c.-359_-358del	NP_001129135.1:n.-359_-358del
NM_001135664.2:c.-135_-134del	NP_001129136.1:n.-135_-134del