Canonical Allele Identifier: CA162190
Gene: SOCS1 HGNC NCBI
RMI2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135272
ClinVar RCV Id: RCV000122086 RCV002305448
dbSNP Id: rs587778691
ExAC: 16:11349186 GGGGGCC / G
gnomAD v2: 16-11349186-GGGGGCC-G
gnomAD v3: 16-11255329-GGGGGCC-G
gnomAD v4: 16-11255329-GGGGGCC-G
MyVariant Identifiers: chr16:g.11349187_11349192del (hg19) chr16:g.11255330_11255335del (hg38)
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11255339_11255344del , CM000678.2:g.11255339_11255344del GRCh38
NC_000016.9:g.11349196_11349201del , CM000678.1:g.11349196_11349201del GRCh37
NC_000016.8:g.11256697_11256702del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000332029.4:c.144_149del (SOCS1) MANE Select ENSP00000329418.2:p.Ala49_Pro50del
ENST00000332029.3:c.144_149del (SOCS1) ENSP00000329418.2:p.Ala49_Pro50del
ENST00000644787.1:c.144_149del (SOCS1) ENSP00000496577.1:p.Ala49_Pro50del
ENST00000649869.1:n.152+5561_152+5566del (RMI2)
ENST00000332029.2:c.144_149del (SOCS1) ENSP00000329418.2:p.Ala49_Pro50del
ENST00000572173.1:c.-516+5561_-516+5566del (RMI2) ENSP00000461206.1:n.-516+5561_-516+5566del
ENST00000573910.1:n.160+5561_160+5566del (RMI2)
NM_003745.1:c.144_149del (SOCS1) NP_003736.1:p.Ala49_Pro50del
XR_933070.1:n.733+5561_733+5566del
XR_933070.3:n.876+5561_876+5566del
NM_003745.2:c.144_149del (SOCS1) MANE Select NP_003736.1:p.Ala49_Pro50del
Search 100 bp 5'
Search 100 bp 3'