Canonical Allele Identifier: CA2781928060
Gene: COLEC10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119000531_119000533dup , CM000670.2:g.119000531_119000533dup GRCh38
NC_000008.10:g.120012770_120012772dup , CM000670.1:g.120012770_120012772dup GRCh37
NC_000008.9:g.120081951_120081953dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521788.1:n.122+4958_122+4960dup
XM_005250756.2:c.-60+48153_-60+48155dup XP_005250813.1:n.-60+48153_-60+48155dup
NM_001324095.1:c.-323-36905_-323-36903dup NP_001311024.1:n.-323-36905_-323-36903dup
XM_005250756.3:c.-60+48153_-60+48155dup XP_005250813.1:n.-60+48153_-60+48155dup
NM_001324095.2:c.-323-36905_-323-36903dup NP_001311024.1:n.-323-36905_-323-36903dup
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