Canonical Allele Identifier: CA2629105622

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66780858-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780859dup , CM000677.2:g.66780859dup	GRCh38
NC_000015.9:g.67073197dup , CM000677.1:g.67073197dup	GRCh37
NC_000015.8:g.64860251dup	NCBI36
NG_012244.1:g.83524dup
NG_012244.2:g.83524dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-138dup MANE Select	ENSP00000288840.5:n.953-138dup
ENST00000288840.9:c.953-138dup	ENSP00000288840.5:n.953-138dup
ENST00000557916.5:c.1085-138dup	ENSP00000452955.1:n.1085-138dup
ENST00000559931.5:c.257-138dup	ENSP00000453446.1:n.257-138dup
NM_005585.4:c.953-138dup	NP_005576.3:n.953-138dup
NR_027654.1:n.2008-138dup
XM_011521561.1:c.170-138dup	XP_011519863.1:n.170-138dup
XR_931825.1:n.2352-138dup
XM_011521561.2:c.170-138dup	XP_011519863.1:n.170-138dup
NM_005585.5:c.953-138dup MANE Select	NP_005576.3:n.953-138dup
NR_027654.2:n.2108-138dup