Canonical Allele Identifier: CA2392434200

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990466_45990471delinsATGGGG , CM000683.2:g.45990466_45990471delinsATGGGG	GRCh38
NC_000021.8:g.47410380_47410385delinsATGGGG , CM000683.1:g.47410380_47410385delinsATGGGG	GRCh37
NC_000021.7:g.46234808_46234813delinsATGGGG	NCBI36
NG_008674.1:g.13718_13723delinsATGGGG , LRG_475:g.13718_13723delinsATGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+44_1002+49delinsATGGGG MANE Select	ENSP00000355180.3:n.1002+44_1002+49delinsATGGGG
ENST00000361866.7:c.1002+44_1002+49delinsATGGGG	ENSP00000355180.3:n.1002+44_1002+49delinsATGGGG
ENST00000612273.1:c.1002+44_1002+49delinsATGGGG	ENSP00000483630.1:n.1002+44_1002+49delinsATGGGG
NM_001848.2:c.1002+44_1002+49delinsATGGGG , LRG_475t1:c.1002+44_1002+49delinsATGGGG	NP_001839.2:n.1002+44_1002+49delinsATGGGG
NM_001848.3:c.1002+44_1002+49delinsATGGGG MANE Select	NP_001839.2:n.1002+44_1002+49delinsATGGGG