Canonical Allele Identifier: CA1022881892

Gene: COL6A1

Linked Data

• dbSNP Id: rs2123472825
• gnomAD v3: 21-45990582-TGAGGTGATCCCGGCAGGAG-T
• gnomAD v4: 21-45990582-TGAGGTGATCCCGGCAGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990584_45990602del , CM000683.2:g.45990584_45990602del	GRCh38
NC_000021.8:g.47410498_47410516del , CM000683.1:g.47410498_47410516del	GRCh37
NC_000021.7:g.46234926_46234944del	NCBI36
NG_008674.1:g.13836_13854del , LRG_475:g.13836_13854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+162_1003-171del MANE Select	ENSP00000355180.3:n.1002+162_1003-171del
ENST00000361866.7:c.1002+162_1003-171del	ENSP00000355180.3:n.1002+162_1003-171del
ENST00000612273.1:c.1002+162_1003-171del	ENSP00000483630.1:n.1002+162_1003-171del
NM_001848.2:c.1002+162_1003-171del , LRG_475t1:c.1002+162_1003-171del	NP_001839.2:n.1002+162_1003-171del
NM_001848.3:c.1002+162_1003-171del MANE Select	NP_001839.2:n.1002+162_1003-171del