Canonical Allele Identifier: CA2541638176

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003143_189003144insCTTTACCACCAGGT , CM000664.2:g.189003143_189003144insCTTTACCACCAGGT	GRCh38
NC_000002.11:g.189867869_189867870insCTTTACCACCAGGT , CM000664.1:g.189867869_189867870insCTTTACCACCAGGT	GRCh37
NC_000002.10:g.189576114_189576115insCTTTACCACCAGGT	NCBI36
NG_007404.1:g.33771_33772insCTTTACCACCAGGT , LRG_3:g.33771_33772insCTTTACCACCAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2454+81_2454+82insCTTTACCACCAGGT	ENSP00000415346.2:n.2454+81_2454+82insCTTTACCACCAGGT
ENST00000304636.9:c.2553+81_2553+82insCTTTACCACCAGGT MANE Select	ENSP00000304408.4:n.2553+81_2553+82insCTTTACCACCAGGT
ENST00000304636.7:c.2553+81_2553+82insCTTTACCACCAGGT	ENSP00000304408.3:n.2553+81_2553+82insCTTTACCACCAGGT
ENST00000317840.9:c.2527+107_2527+108insCTTTACCACCAGGT	ENSP00000315243.6:n.2527+107_2527+108insCTTTACCACCAGGT
NM_000090.3:c.2553+81_2553+82insCTTTACCACCAGGT , LRG_3t1:c.2553+81_2553+82insCTTTACCACCAGGT	NP_000081.1:n.2553+81_2553+82insCTTTACCACCAGGT
NM_000090.4:c.2553+81_2553+82insCTTTACCACCAGGT MANE Select	NP_000081.2:n.2553+81_2553+82insCTTTACCACCAGGT