Canonical Allele Identifier: CA2392434210

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990470_45990474delinsGGCGA , CM000683.2:g.45990470_45990474delinsGGCGA	GRCh38
NC_000021.8:g.47410384_47410388delinsGGCGA , CM000683.1:g.47410384_47410388delinsGGCGA	GRCh37
NC_000021.7:g.46234812_46234816delinsGGCGA	NCBI36
NG_008674.1:g.13722_13726delinsGGCGA , LRG_475:g.13722_13726delinsGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+48_1002+52delinsGGCGA MANE Select	ENSP00000355180.3:n.1002+48_1002+52delinsGGCGA
ENST00000361866.7:c.1002+48_1002+52delinsGGCGA	ENSP00000355180.3:n.1002+48_1002+52delinsGGCGA
ENST00000612273.1:c.1002+48_1002+52delinsGGCGA	ENSP00000483630.1:n.1002+48_1002+52delinsGGCGA
NM_001848.2:c.1002+48_1002+52delinsGGCGA , LRG_475t1:c.1002+48_1002+52delinsGGCGA	NP_001839.2:n.1002+48_1002+52delinsGGCGA
NM_001848.3:c.1002+48_1002+52delinsGGCGA MANE Select	NP_001839.2:n.1002+48_1002+52delinsGGCGA