Canonical Allele Identifier: CA512084329

Gene: TTC3

Linked Data

• dbSNP Id: rs2079258360
• gnomAD v3: 21-37149398-ATAAT-A
• gnomAD v4: 21-37149398-ATAAT-A
• MyVariant Identifiers: chr21:g.38521699_38521702del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37149406_37149409del , CM000683.2:g.37149406_37149409del	GRCh38
NC_000021.8:g.38521706_38521709del , CM000683.1:g.38521706_38521709del	GRCh37
NC_000021.7:g.37443576_37443579del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000411496.2:c.2119-672_2119-669del	ENSP00000387880.2:n.2119-672_2119-669del
ENST00000418766.6:c.2119-672_2119-669del MANE Select	ENSP00000403943.2:n.2119-672_2119-669del
ENST00000450533.6:c.2119-672_2119-669del	ENSP00000408456.2:n.2119-672_2119-669del
ENST00000463216.6:c.1189-672_1189-669del	ENSP00000512893.1:n.1189-672_1189-669del
ENST00000481605.6:c.916-672_916-669del	ENSP00000512892.1:n.916-672_916-669del
ENST00000492275.6:c.1189-672_1189-669del	ENSP00000512889.1:n.1189-672_1189-669del
ENST00000696811.1:c.2167-672_2167-669del	ENSP00000512890.1:n.2167-672_2167-669del
ENST00000696812.1:c.1189-672_1189-669del	ENSP00000512891.1:n.1189-672_1189-669del
ENST00000354749.6:c.2119-672_2119-669del	ENSP00000346791.2:n.2119-672_2119-669del
ENST00000355666.5:c.2119-672_2119-669del	ENSP00000347889.1:n.2119-672_2119-669del
ENST00000399017.6:c.2119-672_2119-669del	ENSP00000381981.2:n.2119-672_2119-669del
ENST00000414818.1:c.210-672_210-669del
ENST00000418766.5:c.2119-672_2119-669del	ENSP00000403943.1:n.2119-672_2119-669del
ENST00000438055.5:c.2065-672_2065-669del	ENSP00000391891.1:n.2065-672_2065-669del
ENST00000450533.5:c.2119-672_2119-669del	ENSP00000408456.1:n.2119-672_2119-669del
ENST00000476784.5:n.1928-672_1928-669del
ENST00000479930.5:n.3501-672_3501-669del
ENST00000481605.5:n.1308-672_1308-669del
ENST00000485402.5:n.2194-672_2194-669del
ENST00000540756.5:c.1189-672_1189-669del	ENSP00000442875.1:n.1189-672_1189-669del
NM_001001894.1:c.2119-672_2119-669del	NP_001001894.1:n.2119-672_2119-669del
NM_003316.3:c.2119-672_2119-669del	NP_003307.3:n.2119-672_2119-669del
XM_005261048.1:c.2167-672_2167-669del	XP_005261105.1:n.2167-672_2167-669del
XM_005261049.1:c.2167-672_2167-669del	XP_005261106.1:n.2167-672_2167-669del
XM_005261050.3:c.2167-672_2167-669del	XP_005261107.1:n.2167-672_2167-669del
XM_005261052.1:c.2119-672_2119-669del	XP_005261109.1:n.2119-672_2119-669del
XM_005261053.1:c.2119-672_2119-669del	XP_005261110.1:n.2119-672_2119-669del
XM_005261054.2:c.2119-672_2119-669del	XP_005261111.1:n.2119-672_2119-669del
XM_005261055.1:c.1189-672_1189-669del	XP_005261112.1:n.1189-672_1189-669del
XM_005261056.1:c.1189-672_1189-669del	XP_005261113.1:n.1189-672_1189-669del
XM_011529738.1:c.2167-672_2167-669del	XP_011528040.1:n.2167-672_2167-669del
XM_011529739.1:c.1420-672_1420-669del	XP_011528041.1:n.1420-672_1420-669del
XM_011529740.1:c.1420-672_1420-669del	XP_011528042.1:n.1420-672_1420-669del
XM_011529741.1:c.2167-672_2167-669del	XP_011528043.1:n.2167-672_2167-669del
XM_011529742.1:c.2167-672_2167-669del	XP_011528044.1:n.2167-672_2167-669del
NM_001001894.2:c.2119-672_2119-669del	NP_001001894.1:n.2119-672_2119-669del
NM_001320703.1:c.2185-672_2185-669del	NP_001307632.1:n.2185-672_2185-669del
NM_001320704.1:c.2119-672_2119-669del	NP_001307633.1:n.2119-672_2119-669del
NM_001330681.1:c.1189-672_1189-669del	NP_001317610.1:n.1189-672_1189-669del
NM_001330682.1:c.1189-672_1189-669del	NP_001317611.1:n.1189-672_1189-669del
NM_001330683.1:c.2119-672_2119-669del	NP_001317612.1:n.2119-672_2119-669del
NM_001353936.1:c.1189-672_1189-669del	NP_001340865.1:n.1189-672_1189-669del
NM_001353937.1:c.18-672_18-669del	NP_001340866.1:n.18-672_18-669del
NM_001353938.1:c.18-672_18-669del	NP_001340867.1:n.18-672_18-669del
NM_003316.4:c.2119-672_2119-669del	NP_003307.3:n.2119-672_2119-669del
XM_005261050.5:c.2167-672_2167-669del	XP_005261107.1:n.2167-672_2167-669del
XM_005261054.3:c.2119-672_2119-669del	XP_005261111.1:n.2119-672_2119-669del
XM_005261055.2:c.1189-672_1189-669del	XP_005261112.1:n.1189-672_1189-669del
XM_005261056.3:c.1189-672_1189-669del	XP_005261113.1:n.1189-672_1189-669del
XM_011529739.2:c.1420-672_1420-669del	XP_011528041.1:n.1420-672_1420-669del
XM_011529740.3:c.1420-672_1420-669del	XP_011528042.1:n.1420-672_1420-669del
XM_017028458.1:c.2233-672_2233-669del	XP_016883947.1:n.2233-672_2233-669del
XM_017028459.2:c.2233-672_2233-669del	XP_016883948.1:n.2233-672_2233-669del
XM_017028460.2:c.2185-672_2185-669del	XP_016883949.1:n.2185-672_2185-669del
XM_017028461.2:c.2167-672_2167-669del	XP_016883950.1:n.2167-672_2167-669del
XM_017028462.2:c.2167-672_2167-669del	XP_016883951.1:n.2167-672_2167-669del
XM_017028465.1:c.1189-672_1189-669del	XP_016883954.1:n.1189-672_1189-669del
XR_001754907.1:n.2276-672_2276-669del
XR_002958632.1:n.2276-672_2276-669del
NM_001320703.2:c.2185-672_2185-669del	NP_001307632.1:n.2185-672_2185-669del
NM_001320704.2:c.2119-672_2119-669del	NP_001307633.1:n.2119-672_2119-669del
NM_001330681.2:c.1189-672_1189-669del	NP_001317610.1:n.1189-672_1189-669del
NM_001330682.2:c.1189-672_1189-669del	NP_001317611.1:n.1189-672_1189-669del
NM_001330683.2:c.2119-672_2119-669del MANE Select	NP_001317612.1:n.2119-672_2119-669del
NM_001353936.2:c.1189-672_1189-669del	NP_001340865.1:n.1189-672_1189-669del
NM_001353937.2:c.18-672_18-669del	NP_001340866.1:n.18-672_18-669del
NM_001353938.2:c.18-672_18-669del	NP_001340867.1:n.18-672_18-669del
NM_001001894.3:c.2119-672_2119-669del	NP_001001894.1:n.2119-672_2119-669del