Canonical Allele Identifier: CA1586231775

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139273946_139273951delinsTCTCTC , CM000667.2:g.139273946_139273951delinsTCTCTC GRCh38
NC_000005.9:g.138609635_138609640delinsTCTCTC , CM000667.1:g.138609635_138609640delinsTCTCTC GRCh37
NC_000005.8:g.138637534_138637539delinsTCTCTC NCBI36
NG_012846.1:g.4844_4849delinsTCTCTC

Transcript Alleles

HGVS Amino-acid change
ENST00000506147.5:c.-234_-229delinsTCTCTC ENSP00000423521.1:n.-234_-229delinsTCTCTC
ENST00000508744.1:n.466-297_466-292delinsGAGAGA (SIL1)
ENST00000509400.5:n.293+6617_293+6622delinsGAGAGA (SIL1)
ENST00000509990.5:c.-502_-497delinsTCTCTC ENSP00000423533.1:n.-502_-497delinsTCTCTC
ENST00000512107.5:c.-451_-446delinsTCTCTC ENSP00000423695.1:n.-451_-446delinsTCTCTC
NM_001194954.1:c.-502_-497delinsTCTCTC (MATR3) NP_001181883.1:n.-502_-497delinsTCTCTC
NM_001282278.1:c.-509_-504delinsTCTCTC (MATR3) NP_001269207.1:n.-509_-504delinsTCTCTC
NM_199189.2:c.-584_-579delinsTCTCTC (MATR3) NP_954659.1:n.-584_-579delinsTCTCTC
NR_003141.3:n.195_200delinsTCTCTC (SNHG4)
NR_036536.1:n.195_200delinsTCTCTC (SNHG4)