Canonical Allele Identifier: CA2629100880

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703235-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703239dup , CM000677.2:g.66703239dup	GRCh38
NC_000015.9:g.66995577dup , CM000677.1:g.66995577dup	GRCh37
NC_000015.8:g.64782631dup	NCBI36
NG_012244.1:g.5904dup
NG_012244.2:g.5904dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.-20dup MANE Select	ENSP00000288840.5:n.-20dup
ENST00000288840.9:c.-20dup	ENSP00000288840.5:n.-20dup
ENST00000612349.1:n.163dup
NM_005585.4:c.-20dup	NP_005576.3:n.-20dup
NR_027654.1:n.904dup
XR_931825.1:n.1140dup
XR_931826.1:n.1140dup
XR_931827.1:n.1140dup
XR_931827.2:n.1130dup
NM_005585.5:c.-20dup MANE Select	NP_005576.3:n.-20dup
NR_027654.2:n.1004dup