Canonical Allele Identifier: CA970963709

Gene: SMAD6

Linked Data

• dbSNP Id: rs1894547213
• gnomAD v3: 15-66780914-GAC-G
• gnomAD v4: 15-66780914-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780916_66780917del , CM000677.2:g.66780916_66780917del	GRCh38
NC_000015.9:g.67073254_67073255del , CM000677.1:g.67073254_67073255del	GRCh37
NC_000015.8:g.64860308_64860309del	NCBI36
NG_012244.1:g.83581_83582del
NG_012244.2:g.83581_83582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-81_953-80del MANE Select	ENSP00000288840.5:n.953-81_953-80del
ENST00000288840.9:c.953-81_953-80del	ENSP00000288840.5:n.953-81_953-80del
ENST00000557916.5:c.1085-81_1085-80del	ENSP00000452955.1:n.1085-81_1085-80del
ENST00000559931.5:c.257-81_257-80del	ENSP00000453446.1:n.257-81_257-80del
NM_005585.4:c.953-81_953-80del	NP_005576.3:n.953-81_953-80del
NR_027654.1:n.2008-81_2008-80del
XM_011521561.1:c.170-81_170-80del	XP_011519863.1:n.170-81_170-80del
XR_931825.1:n.2352-81_2352-80del
XM_011521561.2:c.170-81_170-80del	XP_011519863.1:n.170-81_170-80del
NM_005585.5:c.953-81_953-80del MANE Select	NP_005576.3:n.953-81_953-80del
NR_027654.2:n.2108-81_2108-80del