Canonical Allele Identifier: CA658795368
Gene: SKI HGNC NCBI

Linked Data

ClinVar Variation Id: 508459
ClinVar RCV Id: RCV000603011
dbSNP Id: rs1219383549
gnomAD v3: 1-2228740-G-GAGCGGC
gnomAD v4: 1-2228740-G-GAGCGGC
MyVariant Identifiers: chr1:g.2160180_2160185dup (hg19) chr1:g.2160179_2160180insAGCGGC (hg19) chr1:g.2228741_2228746dup (hg38) chr1:g.2228740_2228741insAGCGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2228741_2228746dup , CM000663.2:g.2228741_2228746dup GRCh38
NC_000001.10:g.2160180_2160185dup , CM000663.1:g.2160180_2160185dup GRCh37
NC_000001.9:g.2150040_2150045dup NCBI36
NG_013084.1:g.5047_5052dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000704337.1:n.137+1217_137+1222dup
ENST00000378536.5:c.-26_-21dup MANE Select ENSP00000367797.4:n.-26_-21dup
ENST00000378536.4:c.-26_-21dup ENSP00000367797.4:n.-26_-21dup
NM_003036.3:c.-26_-21dup NP_003027.1:n.-26_-21dup
XM_005244775.2:c.-26_-21dup XP_005244832.1:n.-26_-21dup
XM_005244775.3:c.-26_-21dup XP_005244832.1:n.-26_-21dup
NM_003036.4:c.-26_-21dup MANE Select NP_003027.1:n.-26_-21dup
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