Canonical Allele Identifier: CA618794263

Gene: SMAD6

Linked Data

• dbSNP Id: rs1433355873
• gnomAD v2: 15-67066350-ACCG-A
• gnomAD v3: 15-66774012-ACCG-A
• gnomAD v4: 15-66774012-ACCG-A
• MyVariant Identifiers: chr15:g.67066351_67066353del (hg19) ; chr15:g.66774013_66774015del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66774015_66774017del , CM000677.2:g.66774015_66774017del	GRCh38
NC_000015.9:g.67066353_67066355del , CM000677.1:g.67066353_67066355del	GRCh37
NC_000015.8:g.64853407_64853409del	NCBI36
NG_012244.1:g.76680_76682del
NG_012244.2:g.76680_76682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-6982_953-6980del MANE Select	ENSP00000288840.5:n.953-6982_953-6980del
ENST00000288840.9:c.953-6982_953-6980del	ENSP00000288840.5:n.953-6982_953-6980del
ENST00000557916.5:c.1085-6982_1085-6980del	ENSP00000452955.1:n.1085-6982_1085-6980del
ENST00000559931.5:c.257-6982_257-6980del	ENSP00000453446.1:n.257-6982_257-6980del
NM_005585.4:c.953-6982_953-6980del	NP_005576.3:n.953-6982_953-6980del
NR_027654.1:n.2008-6982_2008-6980del
XM_011521561.1:c.170-6982_170-6980del	XP_011519863.1:n.170-6982_170-6980del
XR_931825.1:n.2352-6982_2352-6980del
XM_011521561.2:c.170-6982_170-6980del	XP_011519863.1:n.170-6982_170-6980del
NM_005585.5:c.953-6982_953-6980del MANE Select	NP_005576.3:n.953-6982_953-6980del
NR_027654.2:n.2108-6982_2108-6980del