Canonical Allele Identifier: CA2629105637

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66780871-TGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780872_66780874del , CM000677.2:g.66780872_66780874del	GRCh38
NC_000015.9:g.67073210_67073212del , CM000677.1:g.67073210_67073212del	GRCh37
NC_000015.8:g.64860264_64860266del	NCBI36
NG_012244.1:g.83537_83539del
NG_012244.2:g.83537_83539del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-125_953-123del MANE Select	ENSP00000288840.5:n.953-125_953-123del
ENST00000288840.9:c.953-125_953-123del	ENSP00000288840.5:n.953-125_953-123del
ENST00000557916.5:c.1085-125_1085-123del	ENSP00000452955.1:n.1085-125_1085-123del
ENST00000559931.5:c.257-125_257-123del	ENSP00000453446.1:n.257-125_257-123del
NM_005585.4:c.953-125_953-123del	NP_005576.3:n.953-125_953-123del
NR_027654.1:n.2008-125_2008-123del
XM_011521561.1:c.170-125_170-123del	XP_011519863.1:n.170-125_170-123del
XR_931825.1:n.2352-125_2352-123del
XM_011521561.2:c.170-125_170-123del	XP_011519863.1:n.170-125_170-123del
NM_005585.5:c.953-125_953-123del MANE Select	NP_005576.3:n.953-125_953-123del
NR_027654.2:n.2108-125_2108-123del