Canonical Allele Identifier: CA7626687

Gene: SMAD6

Linked Data

• dbSNP Id: rs758158694
• ExAC: 15:67073291 T / TC
• gnomAD v4: 15-66780953-T-TC
• MyVariant Identifiers: chr15:g.67073291_67073292insC (hg19) ; chr15:g.66780953_66780954insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780957dup , CM000677.2:g.66780957dup	GRCh38
NC_000015.9:g.67073295dup , CM000677.1:g.67073295dup	GRCh37
NC_000015.8:g.64860349dup	NCBI36
NG_012244.1:g.83622dup
NG_012244.2:g.83622dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-40dup MANE Select	ENSP00000288840.5:n.953-40dup
ENST00000288840.9:c.953-40dup	ENSP00000288840.5:n.953-40dup
ENST00000557916.5:c.1085-40dup	ENSP00000452955.1:n.1085-40dup
ENST00000559931.5:c.257-40dup	ENSP00000453446.1:n.257-40dup
NM_005585.4:c.953-40dup	NP_005576.3:n.953-40dup
NR_027654.1:n.2008-40dup
XM_011521561.1:c.170-40dup	XP_011519863.1:n.170-40dup
XR_931825.1:n.2352-40dup
XM_011521561.2:c.170-40dup	XP_011519863.1:n.170-40dup
NM_005585.5:c.953-40dup MANE Select	NP_005576.3:n.953-40dup
NR_027654.2:n.2108-40dup