Canonical Allele Identifier: CA2753572362

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997576_188997577insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT , CM000664.2:g.188997576_188997577insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT	GRCh38
NC_000002.11:g.189862302_189862303insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT , CM000664.1:g.189862302_189862303insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT	GRCh37
NC_000002.10:g.189570547_189570548insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT	NCBI36
NG_007404.1:g.28204_28205insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT , LRG_3:g.28204_28205insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1771-124_1771-123insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT	ENSP00000415346.2:n.1771-124_1771-123insAACAACATAGTGTCAGAGATT...
ENST00000304636.9:c.1870-124_1870-123insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT MANE Select	ENSP00000304408.4:n.1870-124_1870-123insAACAACATAGTGTCAGAGATT...
ENST00000304636.7:c.1870-124_1870-123insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT	ENSP00000304408.3:n.1870-124_1870-123insAACAACATAGTGTCAGAGATT...
ENST00000317840.9:c.1870-124_1870-123insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT	ENSP00000315243.6:n.1870-124_1870-123insAACAACATAGTGTCAGAGATT...
NM_000090.3:c.1870-124_1870-123insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT , LRG_3t1:c.1870-124_1870-123insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT	NP_000081.1:n.1870-124_1870-123insAACAACATAGTGTCAGAGATTATGTAA...
NM_000090.4:c.1870-124_1870-123insAACAACATAGTGTCAGAGATTATGTAATTTTTGAAGCATTCTT MANE Select	NP_000081.2:n.1870-124_1870-123insAACAACATAGTGTCAGAGATTATGTAA...