Canonical Allele Identifier: CA2629105752

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66780993-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780994del , CM000677.2:g.66780994del	GRCh38
NC_000015.9:g.67073332del , CM000677.1:g.67073332del	GRCh37
NC_000015.8:g.64860386del	NCBI36
NG_012244.1:g.83659del
NG_012244.2:g.83659del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-3del MANE Select	ENSP00000288840.5:n.953-3del
ENST00000288840.9:c.953-3del	ENSP00000288840.5:n.953-3del
ENST00000557916.5:c.1085-3del	ENSP00000452955.1:n.1085-3del
ENST00000559931.5:c.257-3del	ENSP00000453446.1:n.257-3del
NM_005585.4:c.953-3del	NP_005576.3:n.953-3del
NR_027654.1:n.2008-3del
XM_011521561.1:c.170-3del	XP_011519863.1:n.170-3del
XR_931825.1:n.2352-3del
XM_011521561.2:c.170-3del	XP_011519863.1:n.170-3del
NM_005585.5:c.953-3del MANE Select	NP_005576.3:n.953-3del
NR_027654.2:n.2108-3del