Canonical Allele Identifier: CA2508953320
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188991730_188991731insTCTT , CM000664.2:g.188991730_188991731insTCTT GRCh38
NC_000002.11:g.189856456_189856457insTCTT , CM000664.1:g.189856456_189856457insTCTT GRCh37
NC_000002.10:g.189564701_189564702insTCTT NCBI36
NG_007404.1:g.22358_22359insTCTT , LRG_3:g.22358_22359insTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.951+8_951+9insTCTT ENSP00000415346.2:n.951+8_951+9insTCTT
ENST00000304636.9:c.951+8_951+9insTCTT MANE Select ENSP00000304408.4:n.951+8_951+9insTCTT
ENST00000304636.7:c.951+8_951+9insTCTT ENSP00000304408.3:n.951+8_951+9insTCTT
ENST00000317840.9:c.951+8_951+9insTCTT ENSP00000315243.6:n.951+8_951+9insTCTT
ENST00000450867.1:c.49+8_49+9insTCTT
NM_000090.3:c.951+8_951+9insTCTT , LRG_3t1:c.951+8_951+9insTCTT NP_000081.1:n.951+8_951+9insTCTT
NM_000090.4:c.951+8_951+9insTCTT MANE Select NP_000081.2:n.951+8_951+9insTCTT