Canonical Allele Identifier: CA8056568

Gene: RBL2

Linked Data

• dbSNP Id: rs773689633
• ExAC: 16:53504626 TAAAC / T
• gnomAD v2: 16-53504626-TAAAC-T
• gnomAD v3: 16-53470714-TAAAC-T
• gnomAD v4: 16-53470714-TAAAC-T
• MyVariant Identifiers: chr16:g.53504627_53504630del (hg19) ; chr16:g.53470716_53470719del (hg38) ; chr16:g.53470715_53470718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53470718_53470721del , CM000678.2:g.53470718_53470721del	GRCh38
NC_000016.9:g.53504630_53504633del , CM000678.1:g.53504630_53504633del	GRCh37
NC_000016.8:g.52062131_52062134del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262133.11:c.2527-28_2527-25del MANE Select	ENSP00000262133.6:n.2527-28_2527-25del
ENST00000680543.1:n.4318-28_4318-25del
ENST00000262133.10:c.2527-28_2527-25del	ENSP00000262133.6:n.2527-28_2527-25del
ENST00000379935.8:n.2226-28_2226-25del
ENST00000544545.2:c.1657-28_1657-25del	ENSP00000444685.2:n.1657-28_1657-25del
NM_005611.3:c.2527-28_2527-25del	NP_005602.3:n.2527-28_2527-25del
XM_005256083.3:c.2305-28_2305-25del	XP_005256140.1:n.2305-28_2305-25del
XM_011523252.1:c.2527-28_2527-25del	XP_011521554.1:n.2527-28_2527-25del
XM_011523253.1:c.1879-28_1879-25del	XP_011521555.1:n.1879-28_1879-25del
NM_001323608.1:c.2527-28_2527-25del	NP_001310537.1:n.2527-28_2527-25del
NM_001323609.1:c.2527-28_2527-25del	NP_001310538.1:n.2527-28_2527-25del
NM_001323610.1:c.2380-28_2380-25del	NP_001310539.1:n.2380-28_2380-25del
NM_001323611.1:c.2305-28_2305-25del	NP_001310540.1:n.2305-28_2305-25del
XM_011523253.2:c.1879-28_1879-25del	XP_011521555.1:n.1879-28_1879-25del
XM_017023513.1:c.1879-28_1879-25del	XP_016879002.1:n.1879-28_1879-25del
NM_005611.4:c.2527-28_2527-25del MANE Select	NP_005602.3:n.2527-28_2527-25del
NM_001323608.2:c.2527-28_2527-25del	NP_001310537.1:n.2527-28_2527-25del
NM_001323609.2:c.2527-28_2527-25del	NP_001310538.1:n.2527-28_2527-25del
NM_001323610.2:c.2380-28_2380-25del	NP_001310539.1:n.2380-28_2380-25del