Canonical Allele Identifier: CA2804552566
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703209dup , CM000677.2:g.66703209dup GRCh38
NC_000015.9:g.66995547dup , CM000677.1:g.66995547dup GRCh37
NC_000015.8:g.64782601dup NCBI36
NG_012244.1:g.5874dup
NG_012244.2:g.5874dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.-50dup MANE Select ENSP00000288840.5:n.-50dup
ENST00000288840.9:c.-50dup ENSP00000288840.5:n.-50dup
ENST00000612349.1:n.133dup
NM_005585.4:c.-50dup NP_005576.3:n.-50dup
NR_027654.1:n.874dup
XR_931825.1:n.1110dup
XR_931826.1:n.1110dup
XR_931827.1:n.1110dup
XR_931827.2:n.1100dup
NM_005585.5:c.-50dup MANE Select NP_005576.3:n.-50dup
NR_027654.2:n.974dup