Canonical Allele Identifier: CA2597712349
Gene: COL21A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56346023del , CM000668.2:g.56346023del GRCh38
NC_000006.11:g.56210821del , CM000668.1:g.56210821del GRCh37
NC_000006.10:g.56318780del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000370819.5:c.-39+47948del ENSP00000359855.1:n.-39+47948del
XM_011514924.1:c.-39+47948del XP_011513226.1:n.-39+47948del
NM_001318752.1:c.-39+47948del NP_001305681.1:n.-39+47948del
XM_011514924.2:c.-39+47948del XP_011513226.1:n.-39+47948del
NM_001318752.2:c.-39+47948del NP_001305681.1:n.-39+47948del