Canonical Allele Identifier: CA1315400903
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188999359_188999360delinsTC , CM000664.2:g.188999359_188999360delinsTC GRCh38
NC_000002.11:g.189864085_189864086delinsTC , CM000664.1:g.189864085_189864086delinsTC GRCh37
NC_000002.10:g.189572330_189572331delinsTC NCBI36
NG_007404.1:g.29987_29988delinsTC , LRG_3:g.29987_29988delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1998_1999delinsTC ENSP00000415346.2:p.Gly666=
ENST00000304636.9:c.2097_2098delinsTC MANE Select ENSP00000304408.4:p.Gly699=
ENST00000304636.7:c.2097_2098delinsTC ENSP00000304408.3:p.Gly699=
ENST00000317840.9:c.2097_2098delinsTC ENSP00000315243.6:p.Gly699=
NM_000090.3:c.2097_2098delinsTC , LRG_3t1:c.2097_2098delinsTC NP_000081.1:p.Gly699=
NM_000090.4:c.2097_2098delinsTC MANE Select NP_000081.2:p.Gly699=