Canonical Allele Identifier: CA1022876258

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077724261
• gnomAD v3: 21-45984231-G-GCCGCCCGCCTCACGC
• gnomAD v4: 21-45984231-G-GCCGCCCGCCTCACGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984237_45984251dup , CM000683.2:g.45984237_45984251dup	GRCh38
NC_000021.8:g.47404151_47404165dup , CM000683.1:g.47404151_47404165dup	GRCh37
NC_000021.7:g.46228579_46228593dup	NCBI36
NG_008674.1:g.7489_7503dup , LRG_475:g.7489_7503dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361866.8:c.228-32_228-18dup MANE Select	ENSP00000355180.3:n.228-32_228-18dup
ENST00000361866.7:c.228-32_228-18dup	ENSP00000355180.3:n.228-32_228-18dup
ENST00000612273.1:c.228-32_228-18dup	ENSP00000483630.1:n.228-32_228-18dup
NM_001848.2:c.228-32_228-18dup , LRG_475t1:c.228-32_228-18dup	NP_001839.2:n.228-32_228-18dup
NM_001848.3:c.228-32_228-18dup MANE Select	NP_001839.2:n.228-32_228-18dup