Canonical Allele Identifier: CA2556713698
Gene: COL21A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56346059G>A , CM000668.2:g.56346059G>A GRCh38
NC_000006.11:g.56210857G>A , CM000668.1:g.56210857G>A GRCh37
NC_000006.10:g.56318816G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370819.5:c.-39+47912C>T ENSP00000359855.1:n.-39+47912C>T
XM_011514924.1:c.-39+47912C>T XP_011513226.1:n.-39+47912C>T
NM_001318752.1:c.-39+47912C>T NP_001305681.1:n.-39+47912C>T
XM_011514924.2:c.-39+47912C>T XP_011513226.1:n.-39+47912C>T
NM_001318752.2:c.-39+47912C>T NP_001305681.1:n.-39+47912C>T
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