Canonical Allele Identifier: CA147302

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 93796
• ClinVar RCV Id: RCV000079733
• dbSNP Id: rs398123629
• ExAC: 21:47410378 GAATGGGGCGA / G
• gnomAD v2: 21-47410378-GAATGGGGCGA-G
• gnomAD v3: 21-45990464-GAATGGGGCGA-G
• gnomAD v4: 21-45990464-GAATGGGGCGA-G
• MyVariant Identifiers: chr21:g.47410379_47410388del (hg19) ; chr21:g.47410379_47410388delAATGGGGCGA (hg19) ; chr21:g.45990465_45990474del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990465_45990474del , CM000683.2:g.45990465_45990474del	GRCh38
NC_000021.8:g.47410379_47410388del , CM000683.1:g.47410379_47410388del	GRCh37
NC_000021.7:g.46234807_46234816del	NCBI36
NG_008674.1:g.13717_13726del , LRG_475:g.13717_13726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+43_1002+52del MANE Select	ENSP00000355180.3:n.1002+43_1002+52del
ENST00000361866.7:c.1002+43_1002+52del	ENSP00000355180.3:n.1002+43_1002+52del
ENST00000612273.1:c.1002+43_1002+52del	ENSP00000483630.1:n.1002+43_1002+52del
NM_001848.2:c.1002+43_1002+52del , LRG_475t1:c.1002+43_1002+52del	NP_001839.2:n.1002+43_1002+52del
NM_001848.3:c.1002+43_1002+52del MANE Select	NP_001839.2:n.1002+43_1002+52del