Canonical Allele Identifier: CA1022878033

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077748616
• gnomAD v3: 21-45987777-T-TCC
• gnomAD v4: 21-45987777-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987777_45987778insCC , CM000683.2:g.45987777_45987778insCC	GRCh38
NC_000021.8:g.47407691_47407692insCC , CM000683.1:g.47407691_47407692insCC	GRCh37
NC_000021.7:g.46232119_46232120insCC	NCBI36
NG_008674.1:g.11029_11030insCC , LRG_475:g.11029_11030insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+123_804+124insCC MANE Select	ENSP00000355180.3:n.804+123_804+124insCC
ENST00000361866.7:c.804+123_804+124insCC	ENSP00000355180.3:n.804+123_804+124insCC
ENST00000612273.1:c.804+123_804+124insCC	ENSP00000483630.1:n.804+123_804+124insCC
NM_001848.2:c.804+123_804+124insCC , LRG_475t1:c.804+123_804+124insCC	NP_001839.2:n.804+123_804+124insCC
NM_001848.3:c.804+123_804+124insCC MANE Select	NP_001839.2:n.804+123_804+124insCC