Canonical Allele Identifier: CA970963835

Gene: SMAD6

Linked Data

• gnomAD v3: 15-66781043-CG-C
• gnomAD v4: 15-66781043-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781044del , CM000677.2:g.66781044del	GRCh38
NC_000015.9:g.67073382del , CM000677.1:g.67073382del	GRCh37
NC_000015.8:g.64860436del	NCBI36
NG_012244.1:g.83709del
NG_012244.2:g.83709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1000del MANE Select	ENSP00000288840.5:p.Val334TrpfsTer?
ENST00000288840.9:c.1000del	ENSP00000288840.5:p.Val334TrpfsTer?
ENST00000557916.5:c.1132del	ENSP00000452955.1:n.1132del
ENST00000559931.5:c.304del	ENSP00000453446.1:n.304del
NM_005585.4:c.1000del	NP_005576.3:p.Val334TrpfsTer?
NR_027654.1:n.2055del
XM_011521561.1:c.217del	XP_011519863.1:p.Val73TrpfsTer?
XR_931825.1:n.2399del
XM_011521561.2:c.217del	XP_011519863.1:p.Val73TrpfsTer?
NM_005585.5:c.1000del MANE Select	NP_005576.3:p.Val334TrpfsTer?
NR_027654.2:n.2155del