Canonical Allele Identifier: CA1315399562

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188996515_188996520delinsTTCTTC , CM000664.2:g.188996515_188996520delinsTTCTTC	GRCh38
NC_000002.11:g.189861241_189861246delinsTTCTTC , CM000664.1:g.189861241_189861246delinsTTCTTC	GRCh37
NC_000002.10:g.189569486_189569491delinsTTCTTC	NCBI36
NG_007404.1:g.27143_27148delinsTTCTTC , LRG_3:g.27143_27148delinsTTCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1662+19_1662+24delinsTTCTTC	ENSP00000415346.2:n.1662+19_1662+24delinsTTCTTC
ENST00000304636.9:c.1761+19_1761+24delinsTTCTTC MANE Select	ENSP00000304408.4:n.1761+19_1761+24delinsTTCTTC
ENST00000304636.7:c.1761+19_1761+24delinsTTCTTC	ENSP00000304408.3:n.1761+19_1761+24delinsTTCTTC
ENST00000317840.9:c.1761+19_1761+24delinsTTCTTC	ENSP00000315243.6:n.1761+19_1761+24delinsTTCTTC
NM_000090.3:c.1761+19_1761+24delinsTTCTTC , LRG_3t1:c.1761+19_1761+24delinsTTCTTC	NP_000081.1:n.1761+19_1761+24delinsTTCTTC
NM_000090.4:c.1761+19_1761+24delinsTTCTTC MANE Select	NP_000081.2:n.1761+19_1761+24delinsTTCTTC