Canonical Allele Identifier: CA2580093912
Community Standard Title: NM_213607.3(CCDC103):c.332_334delinsCAA (p.Arg111_His112delinsProAsn)
Gene: CCDC103 HGNC NCBI
FAM187A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44902420_44902422delinsCAA , CM000679.2:g.44902420_44902422delinsCAA GRCh38
NC_000017.10:g.42979788_42979790delinsCAA , CM000679.1:g.42979788_42979790delinsCAA GRCh37
NC_000017.9:g.40335314_40335316delinsCAA NCBI36
NG_032674.1:g.2204_2206delinsTTG
NG_032792.1:g.7709_7711delinsCAA

Transcript Alleles

HGVS Amino-acid Change
NM_213607.3:c.332_334delinsCAA (CCDC103) MANE Select NP_998772.1:p.Arg111_His112delinsProAsn
ENST00000417826.3:c.332_334delinsCAA (CCDC103) MANE Select ENSP00000391692.2:p.Arg111_His112delinsProAsn
NM_001258395.1:c.332_334delinsCAA (CCDC103) NP_001245324.1:p.Arg111_His112delinsProAsn
NM_001258395.2:c.332_334delinsCAA (CCDC103) NP_001245324.1:p.Arg111_His112delinsProAsn
NM_001258396.1:c.332_334delinsCAA (CCDC103) NP_001245325.1:p.Arg111_His112delinsProAsn
NM_001258396.2:c.332_334delinsCAA (CCDC103) NP_001245325.1:p.Arg111_His112delinsProAsn
NM_001258397.1:c.*82_*84delinsCAA (CCDC103) NP_001245326.1:n.*82_*84delinsCAA
NM_001258397.3:c.*82_*84delinsCAA (CCDC103) NP_001245326.1:n.*82_*84delinsCAA
NM_001258398.1:c.*21_*23delinsCAA (CCDC103) NP_001245327.1:n.*21_*23delinsCAA
NM_001258398.2:c.*21_*23delinsCAA (CCDC103) NP_001245327.1:n.*21_*23delinsCAA
NM_001258398.3:c.*21_*23delinsCAA (CCDC103) NP_001245327.1:n.*21_*23delinsCAA
NM_001258399.1:c.*21_*23delinsCAA (CCDC103) NP_001245328.1:n.*21_*23delinsCAA
NM_001258399.2:c.*21_*23delinsCAA (CCDC103) NP_001245328.1:n.*21_*23delinsCAA
NM_213607.2:c.332_334delinsCAA (CCDC103) NP_998772.1:p.Arg111_His112delinsProAsn
ENST00000331733.4:c.-1410_-1408delinsCAA (FAM187A) ENSP00000329499.4:n.-1410_-1408delinsCAA
ENST00000357776.6:c.332_334delinsCAA (CCDC103) ENSP00000350420.2:p.Arg111_His112delinsProAsn
ENST00000410006.6:c.332_334delinsCAA (CCDC103) ENSP00000387252.1:p.Arg111_His112delinsProAsn
ENST00000410027.5:c.*82_*84delinsCAA (CCDC103) ENSP00000386640.1:n.*82_*84delinsCAA
ENST00000412523.3:c.332_334delinsCAA (FAM187A) ENSP00000391869.3:p.Arg111_His112delinsProAsn
ENST00000417826.2:c.332_334delinsCAA (CCDC103) ENSP00000391692.2:p.Arg111_His112delinsProAsn