Canonical Allele Identifier: CA2629105767

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781143-TGCCTGGGCCAGCTCAACCTGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781146_66781167del , CM000677.2:g.66781146_66781167del	GRCh38
NC_000015.9:g.67073484_67073505del , CM000677.1:g.67073484_67073505del	GRCh37
NC_000015.8:g.64860538_64860559del	NCBI36
NG_012244.1:g.83811_83832del
NG_012244.2:g.83811_83832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1102_1123del MANE Select	ENSP00000288840.5:p.Leu368SerfsTer?
ENST00000288840.9:c.1102_1123del	ENSP00000288840.5:p.Leu368SerfsTer?
ENST00000557916.5:c.1234_1255del	ENSP00000452955.1:n.1234_1255del
ENST00000559931.5:c.406_427del	ENSP00000453446.1:n.406_427del
NM_005585.4:c.1102_1123del	NP_005576.3:p.Leu368SerfsTer?
NR_027654.1:n.2157_2178del
XM_011521561.1:c.319_340del	XP_011519863.1:p.Leu107SerfsTer?
XR_931825.1:n.2501_2522del
XM_011521561.2:c.319_340del	XP_011519863.1:p.Leu107SerfsTer?
NM_005585.5:c.1102_1123del MANE Select	NP_005576.3:p.Leu368SerfsTer?
NR_027654.2:n.2257_2278del