Canonical Allele Identifier: CA2629100930
Gene: SMAD6 HGNC NCBI

Linked Data

gnomAD v4: 15-66703332-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703333del , CM000677.2:g.66703333del GRCh38
NC_000015.9:g.66995671del , CM000677.1:g.66995671del GRCh37
NC_000015.8:g.64782725del NCBI36
NG_012244.1:g.5998del
NG_012244.2:g.5998del

Transcript Alleles

HGVS Amino-acid change
ENST00000288840.10:c.75del MANE Select ENSP00000288840.5:p.Gly26AlafsTer?
ENST00000288840.9:c.75del ENSP00000288840.5:p.Gly26AlafsTer?
ENST00000557916.5:c.75del ENSP00000452955.1:p.Gly26AlafsTer?
ENST00000612349.1:n.257del
NM_005585.4:c.75del NP_005576.3:p.Gly26AlafsTer?
NR_027654.1:n.998del
XR_931825.1:n.1234del
XR_931826.1:n.1234del
XR_931827.1:n.1234del
XR_931827.2:n.1224del
NM_005585.5:c.75del MANE Select NP_005576.3:p.Gly26AlafsTer?
NR_027654.2:n.1098del
Search 100 bp 5'
Search 100 bp 3'