Canonical Allele Identifier: CA1337607160

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336364_237336379delinsCGGCTTTGCAGCGGCT , CM000664.2:g.237336364_237336379delinsCGGCTTTGCAGCGGCT	GRCh38
NC_000002.11:g.238245007_238245022delinsCGGCTTTGCAGCGGCT , CM000664.1:g.238245007_238245022delinsCGGCTTTGCAGCGGCT	GRCh37
NC_000002.10:g.237909746_237909761delinsCGGCTTTGCAGCGGCT	NCBI36
NG_008676.1:g.82829_82844delinsAGCCGCTGCAAAGCCG , LRG_473:g.82829_82844delinsAGCCGCTGCAAAGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1366_1381delinsAGCCGCTGCAAAGCCG
ENST00000353578.9:c.8103_8118delinsAGCCGCTGCAAAGCCG	ENSP00000315873.4:p.Pro2701=
ENST00000682957.1:c.848_863delinsAGCCGCTGCAAAGCCG
ENST00000684508.1:n.988_1003delinsAGCCGCTGCAAAGCCG
ENST00000295550.9:c.8721_8736delinsAGCCGCTGCAAAGCCG MANE Select	ENSP00000295550.4:p.Pro2907=
ENST00000295550.8:c.8721_8736delinsAGCCGCTGCAAAGCCG	ENSP00000295550.4:p.Pro2907=
ENST00000347401.7:c.6897_6912delinsAGCCGCTGCAAAGCCG	ENSP00000315609.4:p.Pro2299=
ENST00000353578.8:c.8103_8118delinsAGCCGCTGCAAAGCCG	ENSP00000315873.4:p.Pro2701=
ENST00000409809.5:c.8103_8118delinsAGCCGCTGCAAAGCCG	ENSP00000386844.1:p.Pro2701=
ENST00000472056.5:c.6900_6915delinsAGCCGCTGCAAAGCCG	ENSP00000418285.1:p.Pro2300=
ENST00000491769.1:n.5163_5178delinsAGCCGCTGCAAAGCCG
NM_004369.3:c.8721_8736delinsAGCCGCTGCAAAGCCG , LRG_473t1:c.8721_8736delinsAGCCGCTGCAAAGCCG	NP_004360.2:p.Pro2907=
NM_057166.4:c.6900_6915delinsAGCCGCTGCAAAGCCG	NP_476507.3:p.Pro2300=
NM_057167.3:c.8103_8118delinsAGCCGCTGCAAAGCCG	NP_476508.2:p.Pro2701=
XM_005246065.1:c.8121_8136delinsAGCCGCTGCAAAGCCG	XP_005246122.1:p.Pro2707=
XM_005246066.1:c.7500_7515delinsAGCCGCTGCAAAGCCG	XP_005246123.1:p.Pro2500=
XM_006712253.1:c.8220_8235delinsAGCCGCTGCAAAGCCG	XP_006712316.1:p.Pro2740=
XM_011510574.1:c.8718_8733delinsAGCCGCTGCAAAGCCG	XP_011508876.1:p.Pro2906=
XM_011510575.1:c.6315_6330delinsAGCCGCTGCAAAGCCG	XP_011508877.1:p.Pro2105=
XM_017003304.1:c.6315_6330delinsAGCCGCTGCAAAGCCG	XP_016858793.1:p.Pro2105=
XM_024452684.1:c.7500_7515delinsAGCCGCTGCAAAGCCG	XP_024308452.1:p.Pro2500=
NM_004369.4:c.8721_8736delinsAGCCGCTGCAAAGCCG MANE Select	NP_004360.2:p.Pro2907=
NM_057166.5:c.6900_6915delinsAGCCGCTGCAAAGCCG	NP_476507.3:p.Pro2300=
NM_057167.4:c.8103_8118delinsAGCCGCTGCAAAGCCG	NP_476508.2:p.Pro2701=