Canonical Allele Identifier: CA730718602

Gene: CD46 MIR29B2CHG

Linked Data

• dbSNP Id: rs1295250432
• gnomAD v3: 1-207767515-CTAAG-C
• gnomAD v4: 1-207767515-CTAAG-C
• MyVariant Identifiers: chr1:g.207940861_207940864del (hg19) ; chr1:g.207767516_207767519del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207767521_207767524del , CM000663.2:g.207767521_207767524del	GRCh38
NC_000001.10:g.207940866_207940869del , CM000663.1:g.207940866_207940869del	GRCh37
NC_000001.9:g.206007489_206007492del	NCBI36
NG_009296.1:g.20465_20468del , LRG_155:g.20465_20468del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496723.2:n.1350_1353del (CD46)
ENST00000636114.2:n.1343_1346del (CD46)
ENST00000695777.1:c.857-258_857-255del (CD46)	ENSP00000512167.1:n.857-258_857-255del
ENST00000695778.1:c.856+326_856+329del (CD46)	ENSP00000512168.1:n.856+326_856+329del
ENST00000695779.1:n.1358_1361del (CD46)
ENST00000695780.1:c.856+326_856+329del (CD46)	ENSP00000512169.1:n.856+326_856+329del
ENST00000695781.1:c.856+326_856+329del (CD46)	ENSP00000512170.1:n.856+326_856+329del
ENST00000695782.1:c.856+326_856+329del (CD46)	ENSP00000512171.1:n.856+326_856+329del
ENST00000695783.1:n.1334_1337del (CD46)
ENST00000695784.1:c.856+326_856+329del (CD46)	ENSP00000512172.1:n.856+326_856+329del
ENST00000695785.1:n.783-258_783-255del (CD46)
ENST00000367042.6:c.857-258_857-255del (CD46) MANE Select	ENSP00000356009.1:n.857-258_857-255del
ENST00000322875.8:c.857-86_857-83del (CD46)	ENSP00000313875.4:n.857-86_857-83del
ENST00000322918.9:c.856+326_856+329del (CD46)	ENSP00000314664.5:n.856+326_856+329del
ENST00000354848.5:c.857-258_857-255del (CD46)	ENSP00000346912.1:n.857-258_857-255del
ENST00000357714.5:c.856+326_856+329del (CD46)	ENSP00000350346.1:n.856+326_856+329del
ENST00000358170.6:c.857-86_857-83del (CD46)	ENSP00000350893.2:n.857-86_857-83del
ENST00000360212.6:c.856+326_856+329del (CD46)	ENSP00000353342.2:n.856+326_856+329del
ENST00000367041.5:c.856+326_856+329del (CD46)	ENSP00000356008.1:n.856+326_856+329del
ENST00000367042.5:c.857-258_857-255del (CD46)	ENSP00000356009.1:n.857-258_857-255del
ENST00000367047.5:c.668-86_668-83del (CD46)	ENSP00000356014.1:n.668-86_668-83del
ENST00000469535.5:n.2851_2854del (CD46)
ENST00000480003.5:c.857-258_857-255del (CD46)	ENSP00000418471.1:n.857-258_857-255del
ENST00000496723.1:n.317_320del (CD46)
NM_002389.4:c.857-86_857-83del , LRG_155t1:c.857-86_857-83del (CD46)	NP_002380.3:n.857-86_857-83del
NM_153826.3:c.857-258_857-255del (CD46)	NP_722548.1:n.857-258_857-255del
NM_172350.2:c.856+326_856+329del (CD46)	NP_758860.1:n.856+326_856+329del
NM_172351.2:c.857-258_857-255del (CD46)	NP_758861.1:n.857-258_857-255del
NM_172352.2:c.856+326_856+329del (CD46)	NP_758862.1:n.856+326_856+329del
NM_172353.2:c.856+326_856+329del (CD46)	NP_758863.1:n.856+326_856+329del
NM_172359.2:c.857-86_857-83del (CD46)	NP_758869.1:n.857-86_857-83del
NM_172361.2:c.856+326_856+329del (CD46)	NP_758871.1:n.856+326_856+329del
XM_011509563.1:c.857-86_857-83del (CD46)	XP_011507865.1:n.857-86_857-83del
XM_011509564.1:c.857-258_857-255del (CD46)	XP_011507866.1:n.857-258_857-255del
XR_922496.1:n.7667-4531_7667-4528del (MIR29B2CHG)
XR_922497.1:n.6306-4531_6306-4528del (MIR29B2CHG)
NM_172355.2:c.857-258_857-255del (CD46)	NP_758865.1:n.857-258_857-255del
NM_172356.2:c.857-258_857-255del (CD46)	NP_758866.1:n.857-258_857-255del
NM_172357.2:c.856+326_856+329del (CD46)	NP_758867.1:n.856+326_856+329del
NM_172358.2:c.857-258_857-255del (CD46)	NP_758868.1:n.857-258_857-255del
XM_011509563.2:c.857-86_857-83del (CD46)	XP_011507865.1:n.857-86_857-83del
XM_017001308.2:c.857-86_857-83del (CD46)	XP_016856797.1:n.857-86_857-83del
XR_001737177.2:n.1014-86_1014-83del (CD46)
XR_002956621.1:n.1339_1342del (CD46)
XR_002956622.1:n.1339_1342del (CD46)
NM_153826.4:c.857-258_857-255del (CD46)	NP_722548.1:n.857-258_857-255del
NM_172350.3:c.856+326_856+329del (CD46)	NP_758860.1:n.856+326_856+329del
NM_172351.3:c.857-258_857-255del (CD46) MANE Select	NP_758861.1:n.857-258_857-255del
NM_172352.3:c.856+326_856+329del (CD46)	NP_758862.1:n.856+326_856+329del
NM_172353.3:c.856+326_856+329del (CD46)	NP_758863.1:n.856+326_856+329del
NM_172355.3:c.857-258_857-255del (CD46)	NP_758865.1:n.857-258_857-255del
NM_172356.3:c.857-258_857-255del (CD46)	NP_758866.1:n.857-258_857-255del
NM_172357.3:c.856+326_856+329del (CD46)	NP_758867.1:n.856+326_856+329del
NM_172358.3:c.857-258_857-255del (CD46)	NP_758868.1:n.857-258_857-255del
NM_172359.3:c.857-86_857-83del (CD46)	NP_758869.1:n.857-86_857-83del
NM_172361.3:c.856+326_856+329del (CD46)	NP_758871.1:n.856+326_856+329del