Canonical Allele Identifier: CA36501708

Gene: RAB29

Linked Data

• dbSNP Id: rs376166125
• gnomAD v2: 1-205744244-C-CT
• gnomAD v3: 1-205775116-C-CT
• gnomAD v4: 1-205775116-C-CT
• MyVariant Identifiers: chr1:g.205744244_205744245insT (hg19) ; chr1:g.205775116_205775117insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205775119dup , CM000663.2:g.205775119dup	GRCh38
NC_000001.10:g.205744247dup , CM000663.1:g.205744247dup	GRCh37
NC_000001.9:g.204010870dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367139.8:c.-130-31dup MANE Select	ENSP00000356107.3:n.-130-31dup
ENST00000235932.8:c.-130-31dup	ENSP00000235932.4:n.-130-31dup
ENST00000367139.7:c.-130-31dup	ENSP00000356107.3:n.-130-31dup
ENST00000414729.1:c.-161dup	ENSP00000402910.1:n.-161dup
ENST00000437324.6:c.-93+156dup	ENSP00000416613.2:n.-93+156dup
ENST00000446390.6:c.-161dup	ENSP00000389899.2:n.-161dup
ENST00000468887.1:n.168+156dup
ENST00000492534.1:n.35dup
ENST00000528078.1:c.-130-31dup	ENSP00000431483.1:n.-130-31dup
ENST00000533111.1:n.81+12dup
NM_001135662.1:c.-130-31dup	NP_001129134.1:n.-130-31dup
NM_001135663.1:c.-161dup	NP_001129135.1:n.-161dup
NM_001135664.1:c.-93+156dup	NP_001129136.1:n.-93+156dup
NM_003929.2:c.-130-31dup	NP_003920.1:n.-130-31dup
XM_005245569.1:c.-135-26dup	XP_005245626.1:n.-135-26dup
XM_005245570.1:c.-135-26dup	XP_005245627.1:n.-135-26dup
XM_005245571.1:c.-130-31dup	XP_005245628.1:n.-130-31dup
XM_006711605.2:c.-93+257dup	XP_006711668.1:n.-93+257dup
XM_006711606.1:c.-93+285dup	XP_006711669.1:n.-93+285dup
XM_006711605.3:c.-93+257dup	XP_006711668.1:n.-93+257dup
XM_006711606.3:c.-93+285dup	XP_006711669.1:n.-93+285dup
XM_017002748.1:c.-130-31dup	XP_016858237.1:n.-130-31dup
XM_017002749.1:c.-135-26dup	XP_016858238.1:n.-135-26dup
XM_017002750.1:c.-130-31dup	XP_016858239.1:n.-130-31dup
NM_003929.3:c.-130-31dup MANE Select	NP_003920.1:n.-130-31dup
NM_001135662.2:c.-130-31dup	NP_001129134.1:n.-130-31dup
NM_001135663.2:c.-161dup	NP_001129135.1:n.-161dup
NM_001135664.2:c.-93+156dup	NP_001129136.1:n.-93+156dup