Canonical Allele Identifier: CA2392429869

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984019_45984024delinsAGCAGG , CM000683.2:g.45984019_45984024delinsAGCAGG	GRCh38
NC_000021.8:g.47403933_47403938delinsAGCAGG , CM000683.1:g.47403933_47403938delinsAGCAGG	GRCh37
NC_000021.7:g.46228361_46228366delinsAGCAGG	NCBI36
NG_008674.1:g.7271_7276delinsAGCAGG , LRG_475:g.7271_7276delinsAGCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.228-250_228-245delinsAGCAGG MANE Select	ENSP00000355180.3:n.228-250_228-245delinsAGCAGG
ENST00000361866.7:c.228-250_228-245delinsAGCAGG	ENSP00000355180.3:n.228-250_228-245delinsAGCAGG
ENST00000612273.1:c.228-250_228-245delinsAGCAGG	ENSP00000483630.1:n.228-250_228-245delinsAGCAGG
NM_001848.2:c.228-250_228-245delinsAGCAGG , LRG_475t1:c.228-250_228-245delinsAGCAGG	NP_001839.2:n.228-250_228-245delinsAGCAGG
NM_001848.3:c.228-250_228-245delinsAGCAGG MANE Select	NP_001839.2:n.228-250_228-245delinsAGCAGG