Canonical Allele Identifier: CA2629100916
Gene: SMAD6 HGNC NCBI

Linked Data

gnomAD v4: 15-66703270-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703273del , CM000677.2:g.66703273del GRCh38
NC_000015.9:g.66995611del , CM000677.1:g.66995611del GRCh37
NC_000015.8:g.64782665del NCBI36
NG_012244.1:g.5938del
NG_012244.2:g.5938del

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.15del MANE Select ENSP00000288840.5:p.Lys5AsnfsTer?
ENST00000288840.9:c.15del ENSP00000288840.5:p.Lys5AsnfsTer?
ENST00000557916.5:c.15del ENSP00000452955.1:p.Lys5AsnfsTer?
ENST00000612349.1:n.197del
NM_005585.4:c.15del NP_005576.3:p.Lys5AsnfsTer?
NR_027654.1:n.938del
XR_931825.1:n.1174del
XR_931826.1:n.1174del
XR_931827.1:n.1174del
XR_931827.2:n.1164del
NM_005585.5:c.15del MANE Select NP_005576.3:p.Lys5AsnfsTer?
NR_027654.2:n.1038del
Search 100 bp 5'
Search 100 bp 3'