Canonical Allele Identifier: CA1315398200

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993734_188993735delinsTG , CM000664.2:g.188993734_188993735delinsTG	GRCh38
NC_000002.11:g.189858460_189858461delinsTG , CM000664.1:g.189858460_189858461delinsTG	GRCh37
NC_000002.10:g.189566705_189566706delinsTG	NCBI36
NG_007404.1:g.24362_24363delinsTG , LRG_3:g.24362_24363delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-304_1051-303delinsTG	ENSP00000415346.2:n.1051-304_1051-303delinsTG
ENST00000304636.9:c.1149+275_1149+276delinsTG MANE Select	ENSP00000304408.4:n.1149+275_1149+276delinsTG
ENST00000304636.7:c.1149+275_1149+276delinsTG	ENSP00000304408.3:n.1149+275_1149+276delinsTG
ENST00000317840.9:c.1149+275_1149+276delinsTG	ENSP00000315243.6:n.1149+275_1149+276delinsTG
ENST00000450867.1:c.149-304_149-303delinsTG
NM_000090.3:c.1149+275_1149+276delinsTG , LRG_3t1:c.1149+275_1149+276delinsTG	NP_000081.1:n.1149+275_1149+276delinsTG
NM_000090.4:c.1149+275_1149+276delinsTG MANE Select	NP_000081.2:n.1149+275_1149+276delinsTG