Canonical Allele Identifier: CA1022881350

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077769799
• gnomAD v3: 21-45990490-AGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG-A
• gnomAD v4: 21-45990490-AGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990499_45990626del , CM000683.2:g.45990499_45990626del	GRCh38
NC_000021.8:g.47410413_47410540del , CM000683.1:g.47410413_47410540del	GRCh37
NC_000021.7:g.46234841_46234968del	NCBI36
NG_008674.1:g.13751_13878del , LRG_475:g.13751_13878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+77_1003-147del MANE Select	ENSP00000355180.3:n.1002+77_1003-147del
ENST00000361866.7:c.1002+77_1003-147del	ENSP00000355180.3:n.1002+77_1003-147del
ENST00000612273.1:c.1002+77_1003-147del	ENSP00000483630.1:n.1002+77_1003-147del
NM_001848.2:c.1002+77_1003-147del , LRG_475t1:c.1002+77_1003-147del	NP_001839.2:n.1002+77_1003-147del
NM_001848.3:c.1002+77_1003-147del MANE Select	NP_001839.2:n.1002+77_1003-147del