Canonical Allele Identifier: CA2629105754

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781034-CTGGTGCAGCGTGGCGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781035_66781050del , CM000677.2:g.66781035_66781050del	GRCh38
NC_000015.9:g.67073373_67073388del , CM000677.1:g.67073373_67073388del	GRCh37
NC_000015.8:g.64860427_64860442del	NCBI36
NG_012244.1:g.83700_83715del
NG_012244.2:g.83700_83715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.991_1006del MANE Select	ENSP00000288840.5:p.Trp331ThrfsTer?
ENST00000288840.9:c.991_1006del	ENSP00000288840.5:p.Trp331ThrfsTer?
ENST00000557916.5:c.1123_1138del	ENSP00000452955.1:n.1123_1138del
ENST00000559931.5:c.295_310del	ENSP00000453446.1:n.295_310del
NM_005585.4:c.991_1006del	NP_005576.3:p.Trp331ThrfsTer?
NR_027654.1:n.2046_2061del
XM_011521561.1:c.208_223del	XP_011519863.1:p.Trp70ThrfsTer?
XR_931825.1:n.2390_2405del
XM_011521561.2:c.208_223del	XP_011519863.1:p.Trp70ThrfsTer?
NM_005585.5:c.991_1006del MANE Select	NP_005576.3:p.Trp331ThrfsTer?
NR_027654.2:n.2146_2161del