Canonical Allele Identifier: CA1022879634

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077767995
• gnomAD v3: 21-45990413-CGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGG-C
• gnomAD v4: 21-45990413-CGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990414_45990489del , CM000683.2:g.45990414_45990489del	GRCh38
NC_000021.8:g.47410328_47410403del , CM000683.1:g.47410328_47410403del	GRCh37
NC_000021.7:g.46234756_46234831del	NCBI36
NG_008674.1:g.13666_13741del , LRG_475:g.13666_13741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.994_1002+67del
ENST00000361866.7:c.994_1002+67del
ENST00000612273.1:c.994_1002+67del
NM_001848.2:c.994_1002+67del , LRG_475t1:c.994_1002+67del
NM_001848.3:c.994_1002+67del