Canonical Allele Identifier: CA749831821

Gene: COL6A1

Linked Data

• dbSNP Id: rs1387839833
• MyVariant Identifiers: chr21:g.47410560_47410561insA (hg19) ; chr21:g.45990646_45990647insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990646_45990647insA , CM000683.2:g.45990646_45990647insA	GRCh38
NC_000021.8:g.47410560_47410561insA , CM000683.1:g.47410560_47410561insA	GRCh37
NC_000021.7:g.46234988_46234989insA	NCBI36
NG_008674.1:g.13898_13899insA , LRG_475:g.13898_13899insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-127_1003-126insA MANE Select	ENSP00000355180.3:n.1003-127_1003-126insA
ENST00000361866.7:c.1003-127_1003-126insA	ENSP00000355180.3:n.1003-127_1003-126insA
ENST00000612273.1:c.1003-127_1003-126insA	ENSP00000483630.1:n.1003-127_1003-126insA
NM_001848.2:c.1003-127_1003-126insA , LRG_475t1:c.1003-127_1003-126insA	NP_001839.2:n.1003-127_1003-126insA
NM_001848.3:c.1003-127_1003-126insA MANE Select	NP_001839.2:n.1003-127_1003-126insA