Canonical Allele Identifier: CA618795033

Gene: SMAD6

Linked Data

• dbSNP Id: rs1191673600
• gnomAD v2: 15-67073172-A-AT
• MyVariant Identifiers: chr15:g.67073172_67073173insT (hg19) ; chr15:g.66780834_66780835insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780835dup , CM000677.2:g.66780835dup	GRCh38
NC_000015.9:g.67073173dup , CM000677.1:g.67073173dup	GRCh37
NC_000015.8:g.64860227dup	NCBI36
NG_012244.1:g.83500dup
NG_012244.2:g.83500dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-162dup MANE Select	ENSP00000288840.5:n.953-162dup
ENST00000288840.9:c.953-162dup	ENSP00000288840.5:n.953-162dup
ENST00000557916.5:c.1085-162dup	ENSP00000452955.1:n.1085-162dup
ENST00000559931.5:c.257-162dup	ENSP00000453446.1:n.257-162dup
NM_005585.4:c.953-162dup	NP_005576.3:n.953-162dup
NR_027654.1:n.2008-162dup
XM_011521561.1:c.170-162dup	XP_011519863.1:n.170-162dup
XR_931825.1:n.2352-162dup
XM_011521561.2:c.170-162dup	XP_011519863.1:n.170-162dup
NM_005585.5:c.953-162dup MANE Select	NP_005576.3:n.953-162dup
NR_027654.2:n.2108-162dup