Canonical Allele Identifier: CA2654959029

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990449-GGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990458_45990605del , CM000683.2:g.45990458_45990605del	GRCh38
NC_000021.8:g.47410372_47410519del , CM000683.1:g.47410372_47410519del	GRCh37
NC_000021.7:g.46234800_46234947del	NCBI36
NG_008674.1:g.13710_13857del , LRG_475:g.13710_13857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+36_1003-168del MANE Select	ENSP00000355180.3:n.1002+36_1003-168del
ENST00000361866.7:c.1002+36_1003-168del	ENSP00000355180.3:n.1002+36_1003-168del
ENST00000612273.1:c.1002+36_1003-168del	ENSP00000483630.1:n.1002+36_1003-168del
NM_001848.2:c.1002+36_1003-168del , LRG_475t1:c.1002+36_1003-168del	NP_001839.2:n.1002+36_1003-168del
NM_001848.3:c.1002+36_1003-168del MANE Select	NP_001839.2:n.1002+36_1003-168del