Canonical Allele Identifier: CA1337606459

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334791_237334794delinsGGTC , CM000664.2:g.237334791_237334794delinsGGTC	GRCh38
NC_000002.11:g.238243434_238243437delinsGGTC , CM000664.1:g.238243434_238243437delinsGGTC	GRCh37
NC_000002.10:g.237908173_237908176delinsGGTC	NCBI36
NG_008676.1:g.84414_84417delinsGACC , LRG_473:g.84414_84417delinsGACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1246_1611-1243delinsGACC
ENST00000353578.9:c.8443_8446delinsGACC	ENSP00000315873.4:p.Asp2815=
ENST00000682957.1:c.1188_1191delinsGACC
ENST00000295550.9:c.9061_9064delinsGACC MANE Select	ENSP00000295550.4:p.Asp3021=
ENST00000295550.8:c.9061_9064delinsGACC	ENSP00000295550.4:p.Asp3021=
ENST00000347401.7:c.7237_7240delinsGACC	ENSP00000315609.4:p.Asp2413=
ENST00000353578.8:c.8443_8446delinsGACC	ENSP00000315873.4:p.Asp2815=
ENST00000409809.5:c.8443_8446delinsGACC	ENSP00000386844.1:p.Asp2815=
ENST00000472056.5:c.7240_7243delinsGACC	ENSP00000418285.1:p.Asp2414=
ENST00000491769.1:n.5503_5506delinsGACC
NM_004369.3:c.9061_9064delinsGACC , LRG_473t1:c.9061_9064delinsGACC	NP_004360.2:p.Asp3021=
NM_057166.4:c.7240_7243delinsGACC	NP_476507.3:p.Asp2414=
NM_057167.3:c.8443_8446delinsGACC	NP_476508.2:p.Asp2815=
XM_005246065.1:c.8461_8464delinsGACC	XP_005246122.1:p.Asp2821=
XM_005246066.1:c.7840_7843delinsGACC	XP_005246123.1:p.Asp2614=
XM_006712253.1:c.8560_8563delinsGACC	XP_006712316.1:p.Asp2854=
XM_011510574.1:c.9058_9061delinsGACC	XP_011508876.1:p.Asp3020=
XM_011510575.1:c.6655_6658delinsGACC	XP_011508877.1:p.Asp2219=
XM_017003304.1:c.6655_6658delinsGACC	XP_016858793.1:p.Asp2219=
XM_024452684.1:c.7840_7843delinsGACC	XP_024308452.1:p.Asp2614=
NM_004369.4:c.9061_9064delinsGACC MANE Select	NP_004360.2:p.Asp3021=
NM_057166.5:c.7240_7243delinsGACC	NP_476507.3:p.Asp2414=
NM_057167.4:c.8443_8446delinsGACC	NP_476508.2:p.Asp2815=