Canonical Allele Identifier: CA2629105769

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781149-G-GGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781152_66781155dup , CM000677.2:g.66781152_66781155dup	GRCh38
NC_000015.9:g.67073490_67073493dup , CM000677.1:g.67073490_67073493dup	GRCh37
NC_000015.8:g.64860544_64860547dup	NCBI36
NG_012244.1:g.83817_83820dup
NG_012244.2:g.83817_83820dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1108_1111dup MANE Select	ENSP00000288840.5:p.Leu371ProfsTer?
ENST00000288840.9:c.1108_1111dup	ENSP00000288840.5:p.Leu371ProfsTer?
ENST00000557916.5:c.1240_1243dup	ENSP00000452955.1:n.1240_1243dup
ENST00000559931.5:c.412_415dup	ENSP00000453446.1:n.412_415dup
NM_005585.4:c.1108_1111dup	NP_005576.3:p.Leu371ProfsTer?
NR_027654.1:n.2163_2166dup
XM_011521561.1:c.325_328dup	XP_011519863.1:p.Leu110ProfsTer?
XR_931825.1:n.2507_2510dup
XM_011521561.2:c.325_328dup	XP_011519863.1:p.Leu110ProfsTer?
NM_005585.5:c.1108_1111dup MANE Select	NP_005576.3:p.Leu371ProfsTer?
NR_027654.2:n.2263_2266dup