Canonical Allele Identifier: CA1315402437

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189002806_189002807delinsAT , CM000664.2:g.189002806_189002807delinsAT	GRCh38
NC_000002.11:g.189867532_189867533delinsAT , CM000664.1:g.189867532_189867533delinsAT	GRCh37
NC_000002.10:g.189575777_189575778delinsAT	NCBI36
NG_007404.1:g.33434_33435delinsAT , LRG_3:g.33434_33435delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2347-149_2347-148delinsAT	ENSP00000415346.2:n.2347-149_2347-148delinsAT
ENST00000304636.9:c.2446-149_2446-148delinsAT MANE Select	ENSP00000304408.4:n.2446-149_2446-148delinsAT
ENST00000304636.7:c.2446-149_2446-148delinsAT	ENSP00000304408.3:n.2446-149_2446-148delinsAT
ENST00000317840.9:c.2446-149_2446-148delinsAT	ENSP00000315243.6:n.2446-149_2446-148delinsAT
NM_000090.3:c.2446-149_2446-148delinsAT , LRG_3t1:c.2446-149_2446-148delinsAT	NP_000081.1:n.2446-149_2446-148delinsAT
NM_000090.4:c.2446-149_2446-148delinsAT MANE Select	NP_000081.2:n.2446-149_2446-148delinsAT