Canonical Allele Identifier: CA567525128
Gene: COL21A1 HGNC NCBI

Linked Data

dbSNP Id: rs1434960736
gnomAD v2: 6-56210821-AG-A
gnomAD v3: 6-56346023-AG-A
gnomAD v4: 6-56346023-AG-A
MyVariant Identifiers: chr6:g.56210822del (hg19) chr6:g.56346024del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56346024del , CM000668.2:g.56346024del GRCh38
NC_000006.11:g.56210822del , CM000668.1:g.56210822del GRCh37
NC_000006.10:g.56318781del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000370819.5:c.-39+47947del ENSP00000359855.1:n.-39+47947del
XM_011514924.1:c.-39+47947del XP_011513226.1:n.-39+47947del
NM_001318752.1:c.-39+47947del NP_001305681.1:n.-39+47947del
XM_011514924.2:c.-39+47947del XP_011513226.1:n.-39+47947del
NM_001318752.2:c.-39+47947del NP_001305681.1:n.-39+47947del
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