Canonical Allele Identifier: CA2147725737

Linked Data

dbSNP Id: rs2035312479

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75973062_75973063del , CM000676.2:g.75973062_75973063del GRCh38
NC_000014.8:g.76439405_76439406del , CM000676.1:g.76439405_76439406del GRCh37
NC_000014.7:g.75509158_75509159del NCBI36
NG_011715.1:g.13689_13690del , LRG_399:g.13689_13690del

Transcript Alleles

HGVS Amino-acid change
ENST00000238682.8:c.353-1343_353-1342del (TGFB3) MANE Select ENSP00000238682.3:n.353-1343_353-1342del
ENST00000556674.2:c.353-1343_353-1342del (TGFB3) ENSP00000502685.1:n.353-1343_353-1342del
ENST00000238682.7:c.353-1343_353-1342del (TGFB3) ENSP00000238682.3:n.353-1343_353-1342del
ENST00000555677.5:n.90-15823_90-15822del (IFT43)
ENST00000556285.1:c.353-1343_353-1342del (TGFB3) ENSP00000451110.1:n.353-1343_353-1342del
NM_003239.3:c.353-1343_353-1342del (TGFB3) NP_003230.1:n.353-1343_353-1342del
XM_005268028.1:c.353-1343_353-1342del (TGFB3) XP_005268085.1:n.353-1343_353-1342del
NM_001329938.1:c.353-1343_353-1342del (TGFB3) NP_001316867.1:n.353-1343_353-1342del
NM_001329939.1:c.353-1343_353-1342del (TGFB3) NP_001316868.1:n.353-1343_353-1342del
NM_003239.4:c.353-1343_353-1342del (TGFB3) NP_003230.1:n.353-1343_353-1342del
NM_001329938.2:c.353-1343_353-1342del (TGFB3) NP_001316867.1:n.353-1343_353-1342del
NM_001329939.2:c.353-1343_353-1342del (TGFB3) NP_001316868.1:n.353-1343_353-1342del
NM_003239.5:c.353-1343_353-1342del (TGFB3) MANE Select NP_003230.1:n.353-1343_353-1342del