Canonical Allele Identifier: CA970963815

Gene: SMAD6

Linked Data

• dbSNP Id: rs1894551350
• gnomAD v3: 15-66781034-CTGG-C
• gnomAD v4: 15-66781034-CTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781037_66781039del , CM000677.2:g.66781037_66781039del	GRCh38
NC_000015.9:g.67073375_67073377del , CM000677.1:g.67073375_67073377del	GRCh37
NC_000015.8:g.64860429_64860431del	NCBI36
NG_012244.1:g.83702_83704del
NG_012244.2:g.83702_83704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.993_995del MANE Select	ENSP00000288840.5:p.Trp331del
ENST00000288840.9:c.993_995del	ENSP00000288840.5:p.Trp331del
ENST00000557916.5:c.1125_1127del	ENSP00000452955.1:n.1125_1127del
ENST00000559931.5:c.297_299del	ENSP00000453446.1:n.297_299del
NM_005585.4:c.993_995del	NP_005576.3:p.Trp331del
NR_027654.1:n.2048_2050del
XM_011521561.1:c.210_212del	XP_011519863.1:p.Trp70del
XR_931825.1:n.2392_2394del
XM_011521561.2:c.210_212del	XP_011519863.1:p.Trp70del
NM_005585.5:c.993_995del MANE Select	NP_005576.3:p.Trp331del
NR_027654.2:n.2148_2150del