Canonical Allele Identifier: CA2629100925

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703319-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703320del , CM000677.2:g.66703320del	GRCh38
NC_000015.9:g.66995658del , CM000677.1:g.66995658del	GRCh37
NC_000015.8:g.64782712del	NCBI36
NG_012244.1:g.5985del
NG_012244.2:g.5985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.62del MANE Select	ENSP00000288840.5:p.Asp21AlafsTer?
ENST00000288840.9:c.62del	ENSP00000288840.5:p.Asp21AlafsTer?
ENST00000557916.5:c.62del	ENSP00000452955.1:p.Asp21AlafsTer?
ENST00000612349.1:n.244del
NM_005585.4:c.62del	NP_005576.3:p.Asp21AlafsTer?
NR_027654.1:n.985del
XR_931825.1:n.1221del
XR_931826.1:n.1221del
XR_931827.1:n.1221del
XR_931827.2:n.1211del
NM_005585.5:c.62del MANE Select	NP_005576.3:p.Asp21AlafsTer?
NR_027654.2:n.1085del