Canonical Allele Identifier: CA1022881959

Gene: COL6A1

Linked Data

• dbSNP Id: rs2123472893
• gnomAD v3: 21-45990610-AGGAGTGGG-A
• gnomAD v4: 21-45990610-AGGAGTGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990612_45990619del , CM000683.2:g.45990612_45990619del	GRCh38
NC_000021.8:g.47410526_47410533del , CM000683.1:g.47410526_47410533del	GRCh37
NC_000021.7:g.46234954_46234961del	NCBI36
NG_008674.1:g.13864_13871del , LRG_475:g.13864_13871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-161_1003-154del MANE Select	ENSP00000355180.3:n.1003-161_1003-154del
ENST00000361866.7:c.1003-161_1003-154del	ENSP00000355180.3:n.1003-161_1003-154del
ENST00000612273.1:c.1003-161_1003-154del	ENSP00000483630.1:n.1003-161_1003-154del
NM_001848.2:c.1003-161_1003-154del , LRG_475t1:c.1003-161_1003-154del	NP_001839.2:n.1003-161_1003-154del
NM_001848.3:c.1003-161_1003-154del MANE Select	NP_001839.2:n.1003-161_1003-154del