Canonical Allele Identifier: CA912974456

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110822092_110822093insGCAACCTGGAGGCCGCTGAACGCGCCGCAAGGATGATCCAGTGATCGACACCGACAAAGCCGACTTTTTTCGCCTGATCGCCGGGGTGCATTCGTTCTACCGGCAGGAGATCT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169745_110169746insGCAACCTGGAGGCCGCTGAACGCGCCGCAAGGATGATCCAGTGATCGACACCGACAAAGCCGACTTTTTTCGCCTGATCGCCGGGGTGCATTCGTTCTACCGGCAGGAGATCT , CM000675.2:g.110169745_110169746insGCAACCTGGAGGCCGCTGAACGCGCCGCAAGGATGATCCAGTGATCGACACCGACAAAGCCGACTTTTTTCGCCTGATCGCCGGGGTGCATTCGTTCTACCGGCAGGAGATCT	GRCh38
NC_000013.10:g.110822092_110822093insGCAACCTGGAGGCCGCTGAACGCGCCGCAAGGATGATCCAGTGATCGACACCGACAAAGCCGACTTTTTTCGCCTGATCGCCGGGGTGCATTCGTTCTACCGGCAGGAGATCT , CM000675.1:g.110822092_110822093insGCAACCTGGAGGCCGCTGAACGCGCCGCAAGGATGATCCAGTGATCGACACCGACAAAGCCGACTTTTTTCGCCTGATCGCCGGGGTGCATTCGTTCTACCGGCAGGAGATCT	GRCh37
NC_000013.9:g.109620093_109620094insGCAACCTGGAGGCCGCTGAACGCGCCGCAAGGATGATCCAGTGATCGACACCGACAAAGCCGACTTTTTTCGCCTGATCGCCGGGGTGCATTCGTTCTACCGGCAGGAGATCT	NCBI36
NG_011544.2:g.142404_142405insAGATCTCCTGCCGGTAGAACGAATGCACCCCGGCGATCAGGCGAAAAAAGTCGGCTTTGTCGGTGTCGATCACTGGATCATCCTTGCGGCGCGTTCAGCGGCCTCCAGGTTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3759_3760insAGATCTCCTGCCGGTAGAACGAATGCACCCCGGCGATCAGGCGAAAAAAGTCGGCTTTGTCGGTGTCGATCACTGGATCATCCTTGCGGCGCGTTCAGCGGCCTCCAGGTTGC MANE Select	ENSP00000364979.4:p.Gly1254ArgfsTer?
ENST00000375820.8:c.3759_3760insAGATCTCCTGCCGGTAGAACGAATGCACCCCGGCGATCAGGCGAAAAAAGTCGGCTTTGTCGGTGTCGATCACTGGATCATCCTTGCGGCGCGTTCAGCGGCCTCCAGGTTGC	ENSP00000364979.4:p.Gly1254ArgfsTer?
NM_001845.5:c.3759_3760insAGATCTCCTGCCGGTAGAACGAATGCACCCCGGCGATCAGGCGAAAAAAGTCGGCTTTGTCGGTGTCGATCACTGGATCATCCTTGCGGCGCGTTCAGCGGCCTCCAGGTTGC	NP_001836.3:p.Gly1254ArgfsTer?
XM_011521048.1:c.3567_3568insAGATCTCCTGCCGGTAGAACGAATGCACCCCGGCGATCAGGCGAAAAAAGTCGGCTTTGTCGGTGTCGATCACTGGATCATCCTTGCGGCGCGTTCAGCGGCCTCCAGGTTGC	XP_011519350.1:p.Gly1190ArgfsTer?
XM_011521048.2:c.3567_3568insAGATCTCCTGCCGGTAGAACGAATGCACCCCGGCGATCAGGCGAAAAAAGTCGGCTTTGTCGGTGTCGATCACTGGATCATCCTTGCGGCGCGTTCAGCGGCCTCCAGGTTGC	XP_011519350.1:p.Gly1190ArgfsTer?
NM_001845.6:c.3759_3760insAGATCTCCTGCCGGTAGAACGAATGCACCCCGGCGATCAGGCGAAAAAAGTCGGCTTTGTCGGTGTCGATCACTGGATCATCCTTGCGGCGCGTTCAGCGGCCTCCAGGTTGC MANE Select	NP_001836.3:p.Gly1254ArgfsTer?