Canonical Allele Identifier: CA936617919

Gene: CCDC73 EIF3M

Linked Data

• dbSNP Id: rs1855317373
• gnomAD v3: 11-32604327-CTCTT-C
• gnomAD v4: 11-32604327-CTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.32604328_32604331del , CM000673.2:g.32604328_32604331del	GRCh38
NC_000011.9:g.32625874_32625877del , CM000673.1:g.32625874_32625877del	GRCh37
NC_000011.8:g.32582450_32582453del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335185.10:c.3031-1311_3031-1308del (CCDC73) MANE Select	ENSP00000335325.5:n.3031-1311_3031-1308del
ENST00000531120.6:c.*1929_*1932del (EIF3M) MANE Select	ENSP00000436049.1:n.*1929_*1932del
ENST00000335185.9:c.3031-1311_3031-1308del (CCDC73)	ENSP00000335325.5:n.3031-1311_3031-1308del
ENST00000528333.1:c.138-1311_138-1308del (CCDC73)
ENST00000531120.5:c.*1929_*1932del (EIF3M)	ENSP00000436049.1:n.*1929_*1932del
NM_001008391.3:c.3031-1311_3031-1308del (CCDC73)	NP_001008392.2:n.3031-1311_3031-1308del
XM_011519840.1:c.*1929_*1932del (EIF3M)	XP_011518142.1:n.*1929_*1932del
XM_011520139.1:c.2773-1311_2773-1308del (CCDC73)	XP_011518441.1:n.2773-1311_2773-1308del
NM_006360.6:c.*1929_*1932del (EIF3M) MANE Select	NP_006351.2:n.*1929_*1932del
NM_001307929.2:c.*1929_*1932del (EIF3M)	NP_001294858.1:n.*1929_*1932del
NM_001008391.4:c.3031-1311_3031-1308del (CCDC73) MANE Select	NP_001008392.2:n.3031-1311_3031-1308del