Canonical Allele Identifier: CA1315402706
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003300_189003301delinsTA , CM000664.2:g.189003300_189003301delinsTA GRCh38
NC_000002.11:g.189868026_189868027delinsTA , CM000664.1:g.189868026_189868027delinsTA GRCh37
NC_000002.10:g.189576271_189576272delinsTA NCBI36
NG_007404.1:g.33928_33929delinsTA , LRG_3:g.33928_33929delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2455-111_2455-110delinsTA ENSP00000415346.2:n.2455-111_2455-110delinsTA
ENST00000304636.9:c.2554-111_2554-110delinsTA MANE Select ENSP00000304408.4:n.2554-111_2554-110delinsTA
ENST00000304636.7:c.2554-111_2554-110delinsTA ENSP00000304408.3:n.2554-111_2554-110delinsTA
ENST00000317840.9:c.2527+264_2527+265delinsTA ENSP00000315243.6:n.2527+264_2527+265delinsTA
NM_000090.3:c.2554-111_2554-110delinsTA , LRG_3t1:c.2554-111_2554-110delinsTA NP_000081.1:n.2554-111_2554-110delinsTA
NM_000090.4:c.2554-111_2554-110delinsTA MANE Select NP_000081.2:n.2554-111_2554-110delinsTA