Canonical Allele Identifier: CA2654956320

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45984351-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984351_45984352insT , CM000683.2:g.45984351_45984352insT	GRCh38
NC_000021.8:g.47404265_47404266insT , CM000683.1:g.47404265_47404266insT	GRCh37
NC_000021.7:g.46228693_46228694insT	NCBI36
NG_008674.1:g.7603_7604insT , LRG_475:g.7603_7604insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.310_311insT MANE Select	ENSP00000355180.3:p.Thr104IlefsTer?
ENST00000361866.7:c.310_311insT	ENSP00000355180.3:p.Thr104IlefsTer?
ENST00000612273.1:c.310_311insT	ENSP00000483630.1:p.Thr104IlefsTer?
NM_001848.2:c.310_311insT , LRG_475t1:c.310_311insT	NP_001839.2:p.Thr104IlefsTer?
NM_001848.3:c.310_311insT MANE Select	NP_001839.2:p.Thr104IlefsTer?