Canonical Allele Identifier: CA2575767637

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781152-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781153del , CM000677.2:g.66781153del	GRCh38
NC_000015.9:g.67073491del , CM000677.1:g.67073491del	GRCh37
NC_000015.8:g.64860545del	NCBI36
NG_012244.1:g.83818del
NG_012244.2:g.83818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1109del MANE Select	ENSP00000288840.5:p.Gln370ArgfsTer?
ENST00000288840.9:c.1109del	ENSP00000288840.5:p.Gln370ArgfsTer?
ENST00000557916.5:c.1241del	ENSP00000452955.1:n.1241del
ENST00000559931.5:c.413del	ENSP00000453446.1:n.413del
NM_005585.4:c.1109del	NP_005576.3:p.Gln370ArgfsTer?
NR_027654.1:n.2164del
XM_011521561.1:c.326del	XP_011519863.1:p.Gln109ArgfsTer?
XR_931825.1:n.2508del
XM_011521561.2:c.326del	XP_011519863.1:p.Gln109ArgfsTer?
NM_005585.5:c.1109del MANE Select	NP_005576.3:p.Gln370ArgfsTer?
NR_027654.2:n.2264del