Canonical Allele Identifier: CA2629105629

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66780863-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780863_66780864insC , CM000677.2:g.66780863_66780864insC	GRCh38
NC_000015.9:g.67073201_67073202insC , CM000677.1:g.67073201_67073202insC	GRCh37
NC_000015.8:g.64860255_64860256insC	NCBI36
NG_012244.1:g.83528_83529insC
NG_012244.2:g.83528_83529insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-134_953-133insC MANE Select	ENSP00000288840.5:n.953-134_953-133insC
ENST00000288840.9:c.953-134_953-133insC	ENSP00000288840.5:n.953-134_953-133insC
ENST00000557916.5:c.1085-134_1085-133insC	ENSP00000452955.1:n.1085-134_1085-133insC
ENST00000559931.5:c.257-134_257-133insC	ENSP00000453446.1:n.257-134_257-133insC
NM_005585.4:c.953-134_953-133insC	NP_005576.3:n.953-134_953-133insC
NR_027654.1:n.2008-134_2008-133insC
XM_011521561.1:c.170-134_170-133insC	XP_011519863.1:n.170-134_170-133insC
XR_931825.1:n.2352-134_2352-133insC
XM_011521561.2:c.170-134_170-133insC	XP_011519863.1:n.170-134_170-133insC
NM_005585.5:c.953-134_953-133insC MANE Select	NP_005576.3:n.953-134_953-133insC
NR_027654.2:n.2108-134_2108-133insC