Canonical Allele Identifier: CA2629105758

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781091-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781092dup , CM000677.2:g.66781092dup	GRCh38
NC_000015.9:g.67073430dup , CM000677.1:g.67073430dup	GRCh37
NC_000015.8:g.64860484dup	NCBI36
NG_012244.1:g.83757dup
NG_012244.2:g.83757dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1048dup MANE Select	ENSP00000288840.5:p.Tyr350LeufsTer?
ENST00000288840.9:c.1048dup	ENSP00000288840.5:p.Tyr350LeufsTer?
ENST00000557916.5:c.1180dup	ENSP00000452955.1:n.1180dup
ENST00000559931.5:c.352dup	ENSP00000453446.1:n.352dup
NM_005585.4:c.1048dup	NP_005576.3:p.Tyr350LeufsTer?
NR_027654.1:n.2103dup
XM_011521561.1:c.265dup	XP_011519863.1:p.Tyr89LeufsTer?
XR_931825.1:n.2447dup
XM_011521561.2:c.265dup	XP_011519863.1:p.Tyr89LeufsTer?
NM_005585.5:c.1048dup MANE Select	NP_005576.3:p.Tyr350LeufsTer?
NR_027654.2:n.2203dup