Canonical Allele Identifier: CA2804552565

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703201del , CM000677.2:g.66703201del	GRCh38
NC_000015.9:g.66995539del , CM000677.1:g.66995539del	GRCh37
NC_000015.8:g.64782593del	NCBI36
NG_012244.1:g.5866del
NG_012244.2:g.5866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.-58del MANE Select	ENSP00000288840.5:n.-58del
ENST00000288840.9:c.-58del	ENSP00000288840.5:n.-58del
ENST00000612349.1:n.125del
NM_005585.4:c.-58del	NP_005576.3:n.-58del
NR_027654.1:n.866del
XR_931825.1:n.1102del
XR_931826.1:n.1102del
XR_931827.1:n.1102del
XR_931827.2:n.1092del
NM_005585.5:c.-58del MANE Select	NP_005576.3:n.-58del
NR_027654.2:n.966del