Canonical Allele Identifier: CA715042515

Gene: SMAD6

Linked Data

• dbSNP Id: rs1381851133
• gnomAD v3: 15-66780870-A-AT
• gnomAD v4: 15-66780870-A-AT
• MyVariant Identifiers: chr15:g.67073208_67073209insT (hg19) ; chr15:g.66780870_66780871insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780871dup , CM000677.2:g.66780871dup	GRCh38
NC_000015.9:g.67073209dup , CM000677.1:g.67073209dup	GRCh37
NC_000015.8:g.64860263dup	NCBI36
NG_012244.1:g.83536dup
NG_012244.2:g.83536dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-126dup MANE Select	ENSP00000288840.5:n.953-126dup
ENST00000288840.9:c.953-126dup	ENSP00000288840.5:n.953-126dup
ENST00000557916.5:c.1085-126dup	ENSP00000452955.1:n.1085-126dup
ENST00000559931.5:c.257-126dup	ENSP00000453446.1:n.257-126dup
NM_005585.4:c.953-126dup	NP_005576.3:n.953-126dup
NR_027654.1:n.2008-126dup
XM_011521561.1:c.170-126dup	XP_011519863.1:n.170-126dup
XR_931825.1:n.2352-126dup
XM_011521561.2:c.170-126dup	XP_011519863.1:n.170-126dup
NM_005585.5:c.953-126dup MANE Select	NP_005576.3:n.953-126dup
NR_027654.2:n.2108-126dup