Canonical Allele Identifier: CA2737647432

Gene: COL6A1

Linked Data

• dbSNP Id: rs2123489049

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001388_46001389insC , CM000683.2:g.46001388_46001389insC	GRCh38
NC_000021.8:g.47421302_47421303insC , CM000683.1:g.47421302_47421303insC	GRCh37
NC_000021.7:g.46245730_46245731insC	NCBI36
NG_008674.1:g.24640_24641insC , LRG_475:g.24640_24641insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.355+2_355+3insC
ENST00000612273.2:c.82+2_82+3insC
ENST00000682634.1:c.82+2_82+3insC
ENST00000361866.8:c.1956+2_1956+3insC MANE Select	ENSP00000355180.3:n.1956+2_1956+3insC
ENST00000361866.7:c.1956+2_1956+3insC	ENSP00000355180.3:n.1956+2_1956+3insC
ENST00000463060.5:n.355+2_355+3insC
ENST00000498614.5:n.190+2_190+3insC
ENST00000612273.1:c.1950+2_1950+3insC	ENSP00000483630.1:n.1950+2_1950+3insC
NM_001848.2:c.1956+2_1956+3insC , LRG_475t1:c.1956+2_1956+3insC	NP_001839.2:n.1956+2_1956+3insC
NM_001848.3:c.1956+2_1956+3insC MANE Select	NP_001839.2:n.1956+2_1956+3insC