Canonical Allele Identifier: CA2606992625
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs2108648093
gnomAD v3: 3-191356983-T-TA
gnomAD v4: 3-191356983-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191356984dup , CM000665.2:g.191356984dup GRCh38
NC_000003.11:g.191074773dup , CM000665.1:g.191074773dup GRCh37
NC_000003.10:g.192557467dup NCBI36
NG_008994.1:g.32900dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.50-104dup MANE Select ENSP00000376249.4:n.50-104dup
ENST00000392456.4:c.50-104dup ENSP00000376250.4:n.50-104dup
ENST00000392455.7:c.50-104dup ENSP00000376249.3:n.50-104dup
ENST00000392456.3:c.50-104dup ENSP00000376250.3:n.50-104dup
NM_174908.3:c.50-104dup NP_777568.1:n.50-104dup
NM_178335.2:c.50-104dup NP_848018.1:n.50-104dup
XM_011512460.1:c.50-104dup XP_011510762.1:n.50-104dup
NM_178335.3:c.50-104dup MANE Select NP_848018.1:n.50-104dup
NM_174908.4:c.50-104dup NP_777568.1:n.50-104dup
Search 100 bp 5'
Search 100 bp 3'