Canonical Allele Identifier: CA2654972748

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990671-AGGGAGGGTGTGGAGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990672_45990688del , CM000683.2:g.45990672_45990688del	GRCh38
NC_000021.8:g.47410586_47410602del , CM000683.1:g.47410586_47410602del	GRCh37
NC_000021.7:g.46235014_46235030del	NCBI36
NG_008674.1:g.13924_13940del , LRG_475:g.13924_13940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1003-101_1003-85del MANE Select	ENSP00000355180.3:n.1003-101_1003-85del
ENST00000361866.7:c.1003-101_1003-85del	ENSP00000355180.3:n.1003-101_1003-85del
ENST00000612273.1:c.1003-101_1003-85del	ENSP00000483630.1:n.1003-101_1003-85del
NM_001848.2:c.1003-101_1003-85del , LRG_475t1:c.1003-101_1003-85del	NP_001839.2:n.1003-101_1003-85del
NM_001848.3:c.1003-101_1003-85del MANE Select	NP_001839.2:n.1003-101_1003-85del