Canonical Allele Identifier: CA2629105618

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66780853-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780855del , CM000677.2:g.66780855del	GRCh38
NC_000015.9:g.67073193del , CM000677.1:g.67073193del	GRCh37
NC_000015.8:g.64860247del	NCBI36
NG_012244.1:g.83520del
NG_012244.2:g.83520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-142del MANE Select	ENSP00000288840.5:n.953-142del
ENST00000288840.9:c.953-142del	ENSP00000288840.5:n.953-142del
ENST00000557916.5:c.1085-142del	ENSP00000452955.1:n.1085-142del
ENST00000559931.5:c.257-142del	ENSP00000453446.1:n.257-142del
NM_005585.4:c.953-142del	NP_005576.3:n.953-142del
NR_027654.1:n.2008-142del
XM_011521561.1:c.170-142del	XP_011519863.1:n.170-142del
XR_931825.1:n.2352-142del
XM_011521561.2:c.170-142del	XP_011519863.1:n.170-142del
NM_005585.5:c.953-142del MANE Select	NP_005576.3:n.953-142del
NR_027654.2:n.2108-142del