Canonical Allele Identifier: CA638178939

Gene: COL6A1

Linked Data

• gnomAD v2: 21-47410402-GGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACA-G
• gnomAD v3: 21-45990488-GGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACA-G
• gnomAD v4: 21-45990488-GGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACA-G
• MyVariant Identifiers: chr21:g.47410403_47410520del (hg19) ; chr21:g.45990489_45990606del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990490_45990607del , CM000683.2:g.45990490_45990607del	GRCh38
NC_000021.8:g.47410404_47410521del , CM000683.1:g.47410404_47410521del	GRCh37
NC_000021.7:g.46234832_46234949del	NCBI36
NG_008674.1:g.13742_13859del , LRG_475:g.13742_13859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+68_1003-166del MANE Select	ENSP00000355180.3:n.1002+68_1003-166del
ENST00000361866.7:c.1002+68_1003-166del	ENSP00000355180.3:n.1002+68_1003-166del
ENST00000612273.1:c.1002+68_1003-166del	ENSP00000483630.1:n.1002+68_1003-166del
NM_001848.2:c.1002+68_1003-166del , LRG_475t1:c.1002+68_1003-166del	NP_001839.2:n.1002+68_1003-166del
NM_001848.3:c.1002+68_1003-166del MANE Select	NP_001839.2:n.1002+68_1003-166del