Canonical Allele Identifier: CA272023029

Gene: SMAD6

Linked Data

• dbSNP Id: rs902878144
• gnomAD v2: 15-67073203-CCCA-C
• gnomAD v3: 15-66780865-CCCA-C
• gnomAD v4: 15-66780865-CCCA-C
• MyVariant Identifiers: chr15:g.67073204_67073206del (hg19) ; chr15:g.66780866_66780868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66780867_66780869del , CM000677.2:g.66780867_66780869del	GRCh38
NC_000015.9:g.67073205_67073207del , CM000677.1:g.67073205_67073207del	GRCh37
NC_000015.8:g.64860259_64860261del	NCBI36
NG_012244.1:g.83532_83534del
NG_012244.2:g.83532_83534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-130_953-128del MANE Select	ENSP00000288840.5:n.953-130_953-128del
ENST00000288840.9:c.953-130_953-128del	ENSP00000288840.5:n.953-130_953-128del
ENST00000557916.5:c.1085-130_1085-128del	ENSP00000452955.1:n.1085-130_1085-128del
ENST00000559931.5:c.257-130_257-128del	ENSP00000453446.1:n.257-130_257-128del
NM_005585.4:c.953-130_953-128del	NP_005576.3:n.953-130_953-128del
NR_027654.1:n.2008-130_2008-128del
XM_011521561.1:c.170-130_170-128del	XP_011519863.1:n.170-130_170-128del
XR_931825.1:n.2352-130_2352-128del
XM_011521561.2:c.170-130_170-128del	XP_011519863.1:n.170-130_170-128del
NM_005585.5:c.953-130_953-128del MANE Select	NP_005576.3:n.953-130_953-128del
NR_027654.2:n.2108-130_2108-128del