Canonical Allele Identifier: CA2629105766

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781130-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781130_66781131insC , CM000677.2:g.66781130_66781131insC	GRCh38
NC_000015.9:g.67073468_67073469insC , CM000677.1:g.67073468_67073469insC	GRCh37
NC_000015.8:g.64860522_64860523insC	NCBI36
NG_012244.1:g.83795_83796insC
NG_012244.2:g.83795_83796insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1086_1087insC MANE Select	ENSP00000288840.5:p.Gly363ArgfsTer?
ENST00000288840.9:c.1086_1087insC	ENSP00000288840.5:p.Gly363ArgfsTer?
ENST00000557916.5:c.1218_1219insC	ENSP00000452955.1:n.1218_1219insC
ENST00000559931.5:c.390_391insC	ENSP00000453446.1:n.390_391insC
NM_005585.4:c.1086_1087insC	NP_005576.3:p.Gly363ArgfsTer?
NR_027654.1:n.2141_2142insC
XM_011521561.1:c.303_304insC	XP_011519863.1:p.Gly102ArgfsTer?
XR_931825.1:n.2485_2486insC
XM_011521561.2:c.303_304insC	XP_011519863.1:p.Gly102ArgfsTer?
NM_005585.5:c.1086_1087insC MANE Select	NP_005576.3:p.Gly363ArgfsTer?
NR_027654.2:n.2241_2242insC