Canonical Allele Identifier: CA1089349904

Gene: RAB23

Linked Data

• dbSNP Id: rs1764784476
• gnomAD v3: 6-57190188-CTG-C
• gnomAD v4: 6-57190188-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190192_57190193del , CM000668.2:g.57190192_57190193del	GRCh38
NC_000006.11:g.57054990_57054991del , CM000668.1:g.57054990_57054991del	GRCh37
NC_000006.10:g.57162949_57162950del	NCBI36
NG_012170.1:g.37091_37092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.*271_*272del MANE Select	ENSP00000417610.1:n.*271_*272del
ENST00000317483.4:c.*271_*272del	ENSP00000320413.3:n.*271_*272del
ENST00000468148.5:c.*271_*272del	ENSP00000417610.1:n.*271_*272del
NM_001278666.1:c.*271_*272del	NP_001265595.1:n.*271_*272del
NM_001278667.1:c.*271_*272del	NP_001265596.1:n.*271_*272del
NM_001278668.1:c.*271_*272del	NP_001265597.1:n.*271_*272del
NM_016277.4:c.*271_*272del	NP_057361.3:n.*271_*272del
NM_183227.2:c.*271_*272del	NP_899050.1:n.*271_*272del
NR_103822.1:n.844_845del
NM_016277.5:c.*271_*272del MANE Select	NP_057361.3:n.*271_*272del
NM_001278666.2:c.*271_*272del	NP_001265595.1:n.*271_*272del
NM_001278667.2:c.*271_*272del	NP_001265596.1:n.*271_*272del
NM_001278668.2:c.*271_*272del	NP_001265597.1:n.*271_*272del
NM_183227.3:c.*271_*272del	NP_899050.1:n.*271_*272del
NR_103822.2:n.837_838del