Canonical Allele Identifier: CA638178965
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1292921745
gnomAD v2: 21-47410504-TCCC-T
gnomAD v3: 21-45990590-TCCC-T
gnomAD v4: 21-45990590-TCCC-T
MyVariant Identifiers: chr21:g.47410505_47410507del (hg19) chr21:g.45990591_45990593del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990591_45990593del , CM000683.2:g.45990591_45990593del GRCh38
NC_000021.8:g.47410505_47410507del , CM000683.1:g.47410505_47410507del GRCh37
NC_000021.7:g.46234933_46234935del NCBI36
NG_008674.1:g.13843_13845del , LRG_475:g.13843_13845del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1002+169_1002+171del MANE Select ENSP00000355180.3:n.1002+169_1002+171del
ENST00000361866.7:c.1002+169_1002+171del ENSP00000355180.3:n.1002+169_1002+171del
ENST00000612273.1:c.1002+169_1002+171del ENSP00000483630.1:n.1002+169_1002+171del
NM_001848.2:c.1002+169_1002+171del , LRG_475t1:c.1002+169_1002+171del NP_001839.2:n.1002+169_1002+171del
NM_001848.3:c.1002+169_1002+171del MANE Select NP_001839.2:n.1002+169_1002+171del
Search 100 bp 5'
Search 100 bp 3'