Canonical Allele Identifier: CA549858575

Gene: RAB28

Linked Data

• dbSNP Id: rs1323936931
• gnomAD v2: 4-13378381-CTTTA-C
• gnomAD v3: 4-13376757-CTTTA-C
• gnomAD v4: 4-13376757-CTTTA-C
• MyVariant Identifiers: chr4:g.13378382_13378385del (hg19) ; chr4:g.13376758_13376761del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13376761_13376764del , CM000666.2:g.13376761_13376764del	GRCh38
NC_000004.11:g.13378385_13378388del , CM000666.1:g.13378385_13378388del	GRCh37
NC_000004.10:g.12987483_12987486del	NCBI36
NG_033891.1:g.112605_112608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288723.9:c.496-139_496-136del MANE Plus Clinical	ENSP00000288723.4:n.496-139_496-136del
ENST00000330852.10:c.496-139_496-136del MANE Select	ENSP00000328551.5:n.496-139_496-136del
ENST00000288723.8:c.496-139_496-136del	ENSP00000288723.4:n.496-139_496-136del
ENST00000330852.9:c.496-139_496-136del	ENSP00000328551.5:n.496-139_496-136del
ENST00000338176.8:c.496-139_496-136del	ENSP00000340079.4:n.496-139_496-136del
ENST00000504644.1:c.105-139_105-136del
ENST00000508274.5:c.*78-139_*78-136del	ENSP00000424043.1:n.*78-139_*78-136del
ENST00000511649.5:c.263-139_263-136del
ENST00000630951.1:c.*78-139_*78-136del	ENSP00000485808.1:n.*78-139_*78-136del
NM_001017979.2:c.496-139_496-136del	NP_001017979.1:n.496-139_496-136del
NM_001159601.1:c.496-139_496-136del	NP_001153073.1:n.496-139_496-136del
NM_004249.3:c.496-139_496-136del	NP_004240.2:n.496-139_496-136del
XM_005248215.3:c.496-139_496-136del	XP_005248272.1:n.496-139_496-136del
XM_011513911.1:c.496-139_496-136del	XP_011512213.1:n.496-139_496-136del
XM_011513912.1:c.265-139_265-136del	XP_011512214.1:n.265-139_265-136del
XR_925360.1:n.711-139_711-136del
XR_925361.1:n.711-139_711-136del
NM_001017979.3:c.496-139_496-136del MANE Select	NP_001017979.1:n.496-139_496-136del
NM_004249.4:c.496-139_496-136del MANE Plus Clinical	NP_004240.2:n.496-139_496-136del
NM_001159601.2:c.496-139_496-136del	NP_001153073.1:n.496-139_496-136del