Canonical Allele Identifier: CA272023018

Gene: SMAD6

Linked Data

• dbSNP Id: rs145861298
• gnomAD v2: 15-67073197-A-ACAGT
• gnomAD v3: 15-66780859-A-ACAGT
• gnomAD v4: 15-66780859-A-ACAGT
• MyVariant Identifiers: chr15:g.67073197_67073198insCAGT (hg19) ; chr15:g.66780859_66780860insCAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780860_66780861insAGTC , CM000677.2:g.66780860_66780861insAGTC	GRCh38
NC_000015.9:g.67073198_67073199insAGTC , CM000677.1:g.67073198_67073199insAGTC	GRCh37
NC_000015.8:g.64860252_64860253insAGTC	NCBI36
NG_012244.1:g.83525_83526insAGTC
NG_012244.2:g.83525_83526insAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-137_953-136insAGTC MANE Select	ENSP00000288840.5:n.953-137_953-136insAGTC
ENST00000288840.9:c.953-137_953-136insAGTC	ENSP00000288840.5:n.953-137_953-136insAGTC
ENST00000557916.5:c.1085-137_1085-136insAGTC	ENSP00000452955.1:n.1085-137_1085-136insAGTC
ENST00000559931.5:c.257-137_257-136insAGTC	ENSP00000453446.1:n.257-137_257-136insAGTC
NM_005585.4:c.953-137_953-136insAGTC	NP_005576.3:n.953-137_953-136insAGTC
NR_027654.1:n.2008-137_2008-136insAGTC
XM_011521561.1:c.170-137_170-136insAGTC	XP_011519863.1:n.170-137_170-136insAGTC
XR_931825.1:n.2352-137_2352-136insAGTC
XM_011521561.2:c.170-137_170-136insAGTC	XP_011519863.1:n.170-137_170-136insAGTC
NM_005585.5:c.953-137_953-136insAGTC MANE Select	NP_005576.3:n.953-137_953-136insAGTC
NR_027654.2:n.2108-137_2108-136insAGTC