Canonical Allele Identifier: CA638177933

Gene: COL6A1

Linked Data

• dbSNP Id: rs1325979015
• gnomAD v2: 21-47407754-G-GA
• gnomAD v3: 21-45987840-G-GA
• gnomAD v4: 21-45987840-G-GA
• MyVariant Identifiers: chr21:g.47407754_47407755insA (hg19) ; chr21:g.45987840_45987841insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987840_45987841insA , CM000683.2:g.45987840_45987841insA	GRCh38
NC_000021.8:g.47407754_47407755insA , CM000683.1:g.47407754_47407755insA	GRCh37
NC_000021.7:g.46232182_46232183insA	NCBI36
NG_008674.1:g.11092_11093insA , LRG_475:g.11092_11093insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+186_804+187insA MANE Select	ENSP00000355180.3:n.804+186_804+187insA
ENST00000361866.7:c.804+186_804+187insA	ENSP00000355180.3:n.804+186_804+187insA
ENST00000612273.1:c.804+186_804+187insA	ENSP00000483630.1:n.804+186_804+187insA
NM_001848.2:c.804+186_804+187insA , LRG_475t1:c.804+186_804+187insA	NP_001839.2:n.804+186_804+187insA
NM_001848.3:c.804+186_804+187insA MANE Select	NP_001839.2:n.804+186_804+187insA