Canonical Allele Identifier: CA1315400938
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188999415_188999416delinsTA , CM000664.2:g.188999415_188999416delinsTA GRCh38
NC_000002.11:g.189864141_189864142delinsTA , CM000664.1:g.189864141_189864142delinsTA GRCh37
NC_000002.10:g.189572386_189572387delinsTA NCBI36
NG_007404.1:g.30043_30044delinsTA , LRG_3:g.30043_30044delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2022+32_2022+33delinsTA ENSP00000415346.2:n.2022+32_2022+33delinsTA
ENST00000304636.9:c.2121+32_2121+33delinsTA MANE Select ENSP00000304408.4:n.2121+32_2121+33delinsTA
ENST00000304636.7:c.2121+32_2121+33delinsTA ENSP00000304408.3:n.2121+32_2121+33delinsTA
ENST00000317840.9:c.2121+32_2121+33delinsTA ENSP00000315243.6:n.2121+32_2121+33delinsTA
NM_000090.3:c.2121+32_2121+33delinsTA , LRG_3t1:c.2121+32_2121+33delinsTA NP_000081.1:n.2121+32_2121+33delinsTA
NM_000090.4:c.2121+32_2121+33delinsTA MANE Select NP_000081.2:n.2121+32_2121+33delinsTA