Canonical Allele Identifier: CA1315399273
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188996117_188996118delinsTA , CM000664.2:g.188996117_188996118delinsTA GRCh38
NC_000002.11:g.189860843_189860844delinsTA , CM000664.1:g.189860843_189860844delinsTA GRCh37
NC_000002.10:g.189569088_189569089delinsTA NCBI36
NG_007404.1:g.26745_26746delinsTA , LRG_3:g.26745_26746delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1510-8_1510-7delinsTA ENSP00000415346.2:n.1510-8_1510-7delinsTA
ENST00000304636.9:c.1609-8_1609-7delinsTA MANE Select ENSP00000304408.4:n.1609-8_1609-7delinsTA
ENST00000304636.7:c.1609-8_1609-7delinsTA ENSP00000304408.3:n.1609-8_1609-7delinsTA
ENST00000317840.9:c.1609-8_1609-7delinsTA ENSP00000315243.6:n.1609-8_1609-7delinsTA
NM_000090.3:c.1609-8_1609-7delinsTA , LRG_3t1:c.1609-8_1609-7delinsTA NP_000081.1:n.1609-8_1609-7delinsTA
NM_000090.4:c.1609-8_1609-7delinsTA MANE Select NP_000081.2:n.1609-8_1609-7delinsTA