Canonical Allele Identifier: CA920320841

Gene: COL6A1

Linked Data

• dbSNP Id: rs1569517969
• gnomAD v3: 21-45987792-GGGTCCAGATGGAGGGGACGGCGGGA-G
• gnomAD v4: 21-45987792-GGGTCCAGATGGAGGGGACGGCGGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987794_45987818del , CM000683.2:g.45987794_45987818del	GRCh38
NC_000021.8:g.47407708_47407732del , CM000683.1:g.47407708_47407732del	GRCh37
NC_000021.7:g.46232136_46232160del	NCBI36
NG_008674.1:g.11046_11070del , LRG_475:g.11046_11070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+140_804+164del MANE Select	ENSP00000355180.3:n.804+140_804+164del
ENST00000361866.7:c.804+140_804+164del	ENSP00000355180.3:n.804+140_804+164del
ENST00000612273.1:c.804+140_804+164del	ENSP00000483630.1:n.804+140_804+164del
NM_001848.2:c.804+140_804+164del , LRG_475t1:c.804+140_804+164del	NP_001839.2:n.804+140_804+164del
NM_001848.3:c.804+140_804+164del MANE Select	NP_001839.2:n.804+140_804+164del