Canonical Allele Identifier: CA2654972622

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990543-G-GTCTCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990543_45990544insTCTCTT , CM000683.2:g.45990543_45990544insTCTCTT	GRCh38
NC_000021.8:g.47410457_47410458insTCTCTT , CM000683.1:g.47410457_47410458insTCTCTT	GRCh37
NC_000021.7:g.46234885_46234886insTCTCTT	NCBI36
NG_008674.1:g.13795_13796insTCTCTT , LRG_475:g.13795_13796insTCTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+121_1002+122insTCTCTT MANE Select	ENSP00000355180.3:n.1002+121_1002+122insTCTCTT
ENST00000361866.7:c.1002+121_1002+122insTCTCTT	ENSP00000355180.3:n.1002+121_1002+122insTCTCTT
ENST00000612273.1:c.1002+121_1002+122insTCTCTT	ENSP00000483630.1:n.1002+121_1002+122insTCTCTT
NM_001848.2:c.1002+121_1002+122insTCTCTT , LRG_475t1:c.1002+121_1002+122insTCTCTT	NP_001839.2:n.1002+121_1002+122insTCTCTT
NM_001848.3:c.1002+121_1002+122insTCTCTT MANE Select	NP_001839.2:n.1002+121_1002+122insTCTCTT