Canonical Allele Identifier: CA2392434425

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990760_45990776delinsTTCCTCTTTCCAGGGGG , CM000683.2:g.45990760_45990776delinsTTCCTCTTTCCAGGGGG	GRCh38
NC_000021.8:g.47410674_47410690delinsTTCCTCTTTCCAGGGGG , CM000683.1:g.47410674_47410690delinsTTCCTCTTTCCAGGGGG	GRCh37
NC_000021.7:g.46235102_46235118delinsTTCCTCTTTCCAGGGGG	NCBI36
NG_008674.1:g.14012_14028delinsTTCCTCTTTCCAGGGGG , LRG_475:g.14012_14028delinsTTCCTCTTTCCAGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-13_1006delinsTTCCTCTTTCCAGGGGG
ENST00000361866.7:c.1003-13_1006delinsTTCCTCTTTCCAGGGGG
ENST00000612273.1:c.1003-13_1006delinsTTCCTCTTTCCAGGGGG
NM_001848.2:c.1003-13_1006delinsTTCCTCTTTCCAGGGGG , LRG_475t1:c.1003-13_1006delinsTTCCTCTTTCCAGGGGG
NM_001848.3:c.1003-13_1006delinsTTCCTCTTTCCAGGGGG