Canonical Allele Identifier: CA528548157

Gene: RAB29

Linked Data

• dbSNP Id: rs1368330902
• gnomAD v2: 1-205744462-TG-T
• gnomAD v3: 1-205775334-TG-T
• gnomAD v4: 1-205775334-TG-T
• MyVariant Identifiers: chr1:g.205744463del (hg19) ; chr1:g.205775335del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205775338del , CM000663.2:g.205775338del	GRCh38
NC_000001.10:g.205744466del , CM000663.1:g.205744466del	GRCh37
NC_000001.9:g.204011089del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367139.8:c.-193del MANE Select	ENSP00000356107.3:n.-193del
ENST00000235932.8:c.-131+39del	ENSP00000235932.4:n.-131+39del
ENST00000367139.7:c.-193del	ENSP00000356107.3:n.-193del
ENST00000414729.1:c.-379del	ENSP00000402910.1:n.-379del
ENST00000437324.6:c.-155del	ENSP00000416613.2:n.-155del
ENST00000468887.1:n.106del
ENST00000528078.1:c.-193del	ENSP00000431483.1:n.-193del
NM_001135662.1:c.-131+39del	NP_001129134.1:n.-131+39del
NM_001135663.1:c.-379del	NP_001129135.1:n.-379del
NM_001135664.1:c.-155del	NP_001129136.1:n.-155del
NM_003929.2:c.-193del	NP_003920.1:n.-193del
XM_005245569.1:c.-136+39del	XP_005245626.1:n.-136+39del
XM_005245570.1:c.-198del	XP_005245627.1:n.-198del
XM_005245571.1:c.-131+67del	XP_005245628.1:n.-131+67del
XM_006711605.2:c.-93+39del	XP_006711668.1:n.-93+39del
XM_006711606.1:c.-93+67del	XP_006711669.1:n.-93+67del
XM_006711605.3:c.-93+39del	XP_006711668.1:n.-93+39del
XM_006711606.3:c.-93+67del	XP_006711669.1:n.-93+67del
XM_017002748.1:c.-193del	XP_016858237.1:n.-193del
XM_017002749.1:c.-198del	XP_016858238.1:n.-198del
XM_017002750.1:c.-131+39del	XP_016858239.1:n.-131+39del
NM_003929.3:c.-193del MANE Select	NP_003920.1:n.-193del
NM_001135662.2:c.-131+39del	NP_001129134.1:n.-131+39del
NM_001135663.2:c.-379del	NP_001129135.1:n.-379del
NM_001135664.2:c.-155del	NP_001129136.1:n.-155del