Canonical Allele Identifier: CA139736066

Gene: RAB23 BAG2

Linked Data

• dbSNP Id: rs1028527766
• gnomAD v2: 6-57054310-CCTT-C
• gnomAD v3: 6-57189512-CCTT-C
• gnomAD v4: 6-57189512-CCTT-C
• MyVariant Identifiers: chr6:g.57054311_57054313del (hg19) ; chr6:g.57189513_57189515del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57189516_57189518del , CM000668.2:g.57189516_57189518del	GRCh38
NC_000006.11:g.57054314_57054316del , CM000668.1:g.57054314_57054316del	GRCh37
NC_000006.10:g.57162273_57162275del	NCBI36
NG_012170.1:g.37766_37768del

Transcript Alleles

HGVS	Amino-acid change
ENST00000468148.6:c.*946_*948del (RAB23) MANE Select	ENSP00000417610.1:n.*946_*948del
ENST00000317483.4:c.*946_*948del (RAB23)	ENSP00000320413.3:n.*946_*948del
ENST00000370693.5:c.*5326_*5328del (BAG2) MANE Select	ENSP00000359727.4:n.*5326_*5328del
ENST00000468148.5:c.*946_*948del (RAB23)	ENSP00000417610.1:n.*946_*948del
NM_001278666.1:c.*946_*948del (RAB23)	NP_001265595.1:n.*946_*948del
NM_001278667.1:c.*946_*948del (RAB23)	NP_001265596.1:n.*946_*948del
NM_001278668.1:c.*946_*948del (RAB23)	NP_001265597.1:n.*946_*948del
NM_016277.4:c.*946_*948del (RAB23)	NP_057361.3:n.*946_*948del
NM_183227.2:c.*946_*948del (RAB23)	NP_899050.1:n.*946_*948del
NR_103822.1:n.1519_1521del (RAB23)
NM_004282.4:c.*5326_*5328del (BAG2) MANE Select	NP_004273.1:n.*5326_*5328del
NM_016277.5:c.*946_*948del (RAB23) MANE Select	NP_057361.3:n.*946_*948del
NM_001278666.2:c.*946_*948del (RAB23)	NP_001265595.1:n.*946_*948del
NM_001278667.2:c.*946_*948del (RAB23)	NP_001265596.1:n.*946_*948del
NM_001278668.2:c.*946_*948del (RAB23)	NP_001265597.1:n.*946_*948del
NM_183227.3:c.*946_*948del (RAB23)	NP_899050.1:n.*946_*948del
NR_103822.2:n.1512_1514del (RAB23)