Canonical Allele Identifier: CA920320839

Gene: COL6A1

Linked Data

• dbSNP Id: rs1569517966
• gnomAD v4: 21-45987790-G-GTGGTCCAGATGGAGGGGACGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987790_45987791insTGGTCCAGATGGAGGGGACGGC , CM000683.2:g.45987790_45987791insTGGTCCAGATGGAGGGGACGGC	GRCh38
NC_000021.8:g.47407704_47407705insTGGTCCAGATGGAGGGGACGGC , CM000683.1:g.47407704_47407705insTGGTCCAGATGGAGGGGACGGC	GRCh37
NC_000021.7:g.46232132_46232133insTGGTCCAGATGGAGGGGACGGC	NCBI36
NG_008674.1:g.11042_11043insTGGTCCAGATGGAGGGGACGGC , LRG_475:g.11042_11043insTGGTCCAGATGGAGGGGACGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+136_804+137insTGGTCCAGATGGAGGGGACGGC MANE Select	ENSP00000355180.3:n.804+136_804+137insTGGTCCAGATGGAGGGGACGGC
ENST00000361866.7:c.804+136_804+137insTGGTCCAGATGGAGGGGACGGC	ENSP00000355180.3:n.804+136_804+137insTGGTCCAGATGGAGGGGACGGC
ENST00000612273.1:c.804+136_804+137insTGGTCCAGATGGAGGGGACGGC	ENSP00000483630.1:n.804+136_804+137insTGGTCCAGATGGAGGGGACGGC
NM_001848.2:c.804+136_804+137insTGGTCCAGATGGAGGGGACGGC , LRG_475t1:c.804+136_804+137insTGGTCCAGATGGAGGGGACGGC	NP_001839.2:n.804+136_804+137insTGGTCCAGATGGAGGGGACGGC
NM_001848.3:c.804+136_804+137insTGGTCCAGATGGAGGGGACGGC MANE Select	NP_001839.2:n.804+136_804+137insTGGTCCAGATGGAGGGGACGGC