Canonical Allele Identifier: CA10069998

Gene: COL6A1

Linked Data

• dbSNP Id: rs764935823
• ExAC: 21:47410376 AGGAAT / A
• gnomAD v2: 21-47410376-AGGAAT-A
• gnomAD v3: 21-45990462-AGGAAT-A
• gnomAD v4: 21-45990462-AGGAAT-A
• MyVariant Identifiers: chr21:g.47410377_47410381del (hg19) ; chr21:g.45990463_45990467del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990465_45990469del , CM000683.2:g.45990465_45990469del	GRCh38
NC_000021.8:g.47410379_47410383del , CM000683.1:g.47410379_47410383del	GRCh37
NC_000021.7:g.46234807_46234811del	NCBI36
NG_008674.1:g.13717_13721del , LRG_475:g.13717_13721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+43_1002+47del MANE Select	ENSP00000355180.3:n.1002+43_1002+47del
ENST00000361866.7:c.1002+43_1002+47del	ENSP00000355180.3:n.1002+43_1002+47del
ENST00000612273.1:c.1002+43_1002+47del	ENSP00000483630.1:n.1002+43_1002+47del
NM_001848.2:c.1002+43_1002+47del , LRG_475t1:c.1002+43_1002+47del	NP_001839.2:n.1002+43_1002+47del
NM_001848.3:c.1002+43_1002+47del MANE Select	NP_001839.2:n.1002+43_1002+47del