Canonical Allele Identifier: CA2629105765

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781128-C-CAGGGCAGCGGCTTCTGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781129_66781147dup , CM000677.2:g.66781129_66781147dup	GRCh38
NC_000015.9:g.67073467_67073485dup , CM000677.1:g.67073467_67073485dup	GRCh37
NC_000015.8:g.64860521_64860539dup	NCBI36
NG_012244.1:g.83794_83812dup
NG_012244.2:g.83794_83812dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1085_1103dup MANE Select	ENSP00000288840.5:p.Leu371ArgfsTer?
ENST00000288840.9:c.1085_1103dup	ENSP00000288840.5:p.Leu371ArgfsTer?
ENST00000557916.5:c.1217_1235dup	ENSP00000452955.1:n.1217_1235dup
ENST00000559931.5:c.389_407dup	ENSP00000453446.1:n.389_407dup
NM_005585.4:c.1085_1103dup	NP_005576.3:p.Leu371ArgfsTer?
NR_027654.1:n.2140_2158dup
XM_011521561.1:c.302_320dup	XP_011519863.1:p.Leu110ArgfsTer?
XR_931825.1:n.2484_2502dup
XM_011521561.2:c.302_320dup	XP_011519863.1:p.Leu110ArgfsTer?
NM_005585.5:c.1085_1103dup MANE Select	NP_005576.3:p.Leu371ArgfsTer?
NR_027654.2:n.2240_2258dup