Canonical Allele Identifier: CA2697549147

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 2704020
• ClinVar RCV Id: RCV003534006

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780995_66781012del , CM000677.2:g.66780995_66781012del	GRCh38
NC_000015.9:g.67073333_67073350del , CM000677.1:g.67073333_67073350del	GRCh37
NC_000015.8:g.64860387_64860404del	NCBI36
NG_012244.1:g.83660_83677del
NG_012244.2:g.83660_83677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-2_968del
ENST00000288840.9:c.953-2_968del
ENST00000557916.5:c.1085-2_1100del
ENST00000559931.5:c.257-2_272del
NM_005585.4:c.953-2_968del
NR_027654.1:n.2008-2_2023del
XM_011521561.1:c.170-2_185del
XR_931825.1:n.2352-2_2367del
XM_011521561.2:c.170-2_185del
NM_005585.5:c.953-2_968del
NR_027654.2:n.2108-2_2123del