Canonical Allele Identifier: CA2629105770

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781154-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781155del , CM000677.2:g.66781155del	GRCh38
NC_000015.9:g.67073493del , CM000677.1:g.67073493del	GRCh37
NC_000015.8:g.64860547del	NCBI36
NG_012244.1:g.83820del
NG_012244.2:g.83820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1111del MANE Select	ENSP00000288840.5:p.Leu371SerfsTer?
ENST00000288840.9:c.1111del	ENSP00000288840.5:p.Leu371SerfsTer?
ENST00000557916.5:c.1243del	ENSP00000452955.1:n.1243del
ENST00000559931.5:c.415del	ENSP00000453446.1:n.415del
NM_005585.4:c.1111del	NP_005576.3:p.Leu371SerfsTer?
NR_027654.1:n.2166del
XM_011521561.1:c.328del	XP_011519863.1:p.Leu110SerfsTer?
XR_931825.1:n.2510del
XM_011521561.2:c.328del	XP_011519863.1:p.Leu110SerfsTer?
NM_005585.5:c.1111del MANE Select	NP_005576.3:p.Leu371SerfsTer?
NR_027654.2:n.2266del