Canonical Allele Identifier: CA1315397102
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188991941_188991942delinsAT , CM000664.2:g.188991941_188991942delinsAT GRCh38
NC_000002.11:g.189856667_189856668delinsAT , CM000664.1:g.189856667_189856668delinsAT GRCh37
NC_000002.10:g.189564912_189564913delinsAT NCBI36
NG_007404.1:g.22569_22570delinsAT , LRG_3:g.22569_22570delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.951+219_951+220delinsAT ENSP00000415346.2:n.951+219_951+220delinsAT
ENST00000304636.9:c.951+219_951+220delinsAT MANE Select ENSP00000304408.4:n.951+219_951+220delinsAT
ENST00000304636.7:c.951+219_951+220delinsAT ENSP00000304408.3:n.951+219_951+220delinsAT
ENST00000317840.9:c.951+219_951+220delinsAT ENSP00000315243.6:n.951+219_951+220delinsAT
ENST00000450867.1:c.49+219_49+220delinsAT
NM_000090.3:c.951+219_951+220delinsAT , LRG_3t1:c.951+219_951+220delinsAT NP_000081.1:n.951+219_951+220delinsAT
NM_000090.4:c.951+219_951+220delinsAT MANE Select NP_000081.2:n.951+219_951+220delinsAT