Canonical Allele Identifier: CA715042776

Gene: SMAD6

Linked Data

• dbSNP Id: rs1220118296
• MyVariant Identifiers: chr15:g.67073381del (hg19) ; chr15:g.66781043del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781043del , CM000677.2:g.66781043del	GRCh38
NC_000015.9:g.67073381del , CM000677.1:g.67073381del	GRCh37
NC_000015.8:g.64860435del	NCBI36
NG_012244.1:g.83708del
NG_012244.2:g.83708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.999del MANE Select	ENSP00000288840.5:p.Ser333ArgfsTer?
ENST00000288840.9:c.999del	ENSP00000288840.5:p.Ser333ArgfsTer?
ENST00000557916.5:c.1131del	ENSP00000452955.1:n.1131del
ENST00000559931.5:c.303del	ENSP00000453446.1:n.303del
NM_005585.4:c.999del	NP_005576.3:p.Ser333ArgfsTer?
NR_027654.1:n.2054del
XM_011521561.1:c.216del	XP_011519863.1:p.Ser72ArgfsTer?
XR_931825.1:n.2398del
XM_011521561.2:c.216del	XP_011519863.1:p.Ser72ArgfsTer?
NM_005585.5:c.999del MANE Select	NP_005576.3:p.Ser333ArgfsTer?
NR_027654.2:n.2154del