Canonical Allele Identifier: CA775518242
Community Standard Title: NM_017950.4(CCDC40):c.2832+461_2832+462insCCA
Gene: CCDC40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80090345_80090346insCCA , CM000679.2:g.80090345_80090346insCCA GRCh38
NC_000017.10:g.78064144_78064145insCCA , CM000679.1:g.78064144_78064145insCCA GRCh37
NC_000017.9:g.75678739_75678740insCCA NCBI36
NG_029761.1:g.58714_58715insCCA

Transcript Alleles

HGVS Amino-acid Change
NM_017950.4:c.2832+461_2832+462insCCA MANE Select NP_060420.2:n.2832+461_2832+462insCCA
ENST00000397545.9:c.2832+461_2832+462insCCA MANE Select ENSP00000380679.4:n.2832+461_2832+462insCCA
NM_001243342.1:c.3039_3040insCCA NP_001230271.1:p.Thr1013_Arg1014insPro
NM_001243342.2:c.3039_3040insCCA NP_001230271.1:p.Thr1013_Arg1014insPro
NM_017950.3:c.2832+461_2832+462insCCA NP_060420.2:n.2832+461_2832+462insCCA
ENST00000374877.7:c.3039_3040insCCA ENSP00000364011.3:p.Thr1013_Arg1014insPro
ENST00000397545.8:c.2832+461_2832+462insCCA ENSP00000380679.4:n.2832+461_2832+462insCCA
ENST00000572253.5:n.3083+461_3083+462insCCA
ENST00000573903.1:n.494+461_494+462insCCA
ENST00000574799.5:n.2369+461_2369+462insCCA
ENST00000575431.1:n.476+461_476+462insCCA
XM_011524963.1:c.2742+461_2742+462insCCA XP_011523265.1:n.2742+461_2742+462insCCA
XM_011524963.3:c.2742+461_2742+462insCCA XP_011523265.1:n.2742+461_2742+462insCCA
XM_011524964.1:c.1653+461_1653+462insCCA XP_011523266.1:n.1653+461_1653+462insCCA
XM_011524964.3:c.1653+461_1653+462insCCA XP_011523266.1:n.1653+461_1653+462insCCA
XM_024450821.1:c.2742+461_2742+462insCCA XP_024306589.1:n.2742+461_2742+462insCCA
XR_934495.2:n.2950+461_2950+462insCCA