Canonical Allele Identifier: CA2629105761

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781100-GGCCGTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781103_66781109del , CM000677.2:g.66781103_66781109del	GRCh38
NC_000015.9:g.67073441_67073447del , CM000677.1:g.67073441_67073447del	GRCh37
NC_000015.8:g.64860495_64860501del	NCBI36
NG_012244.1:g.83768_83774del
NG_012244.2:g.83768_83774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1059_1065del MANE Select	ENSP00000288840.5:p.Val354SerfsTer?
ENST00000288840.9:c.1059_1065del	ENSP00000288840.5:p.Val354SerfsTer?
ENST00000557916.5:c.1191_1197del	ENSP00000452955.1:n.1191_1197del
ENST00000559931.5:c.363_369del	ENSP00000453446.1:n.363_369del
NM_005585.4:c.1059_1065del	NP_005576.3:p.Val354SerfsTer?
NR_027654.1:n.2114_2120del
XM_011521561.1:c.276_282del	XP_011519863.1:p.Val93SerfsTer?
XR_931825.1:n.2458_2464del
XM_011521561.2:c.276_282del	XP_011519863.1:p.Val93SerfsTer?
NM_005585.5:c.1059_1065del MANE Select	NP_005576.3:p.Val354SerfsTer?
NR_027654.2:n.2214_2220del