Canonical Allele Identifier: CA1685998285
Gene: COL28A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7359843_7359849delinsATATATT , CM000669.2:g.7359843_7359849delinsATATATT GRCh38
NC_000007.13:g.7399474_7399480delinsATATATT , CM000669.1:g.7399474_7399480delinsATATATT GRCh37
NC_000007.12:g.7365999_7366005delinsATATATT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000399429.8:c.3205+541_3205+547delinsAATATAT MANE Select ENSP00000382356.3:n.3205+541_3205+547delinsAATATAT
ENST00000399429.7:c.3205+541_3205+547delinsAATATAT ENSP00000382356.3:n.3205+541_3205+547delinsAATATAT
ENST00000430711.5:c.256+541_256+547delinsAATATAT ENSP00000413093.1:n.256+541_256+547delinsAATATAT
ENST00000453441.1:c.70+541_70+547delinsAATATAT ENSP00000391380.1:n.70+541_70+547delinsAATATAT
NM_001037763.2:c.3205+541_3205+547delinsAATATAT NP_001032852.2:n.3205+541_3205+547delinsAATATAT
XM_011515358.1:c.3205+541_3205+547delinsAATATAT XP_011513660.1:n.3205+541_3205+547delinsAATATAT
XM_011515359.1:c.3205+541_3205+547delinsAATATAT XP_011513661.1:n.3205+541_3205+547delinsAATATAT
XM_011515360.1:c.3205+541_3205+547delinsAATATAT XP_011513662.1:n.3205+541_3205+547delinsAATATAT
XM_011515362.1:c.2056+541_2056+547delinsAATATAT XP_011513664.1:n.2056+541_2056+547delinsAATATAT
XR_926936.1:n.3408+541_3408+547delinsAATATAT
XM_011515358.3:c.3205+541_3205+547delinsAATATAT XP_011513660.1:n.3205+541_3205+547delinsAATATAT
XM_011515359.2:c.3205+541_3205+547delinsAATATAT XP_011513661.1:n.3205+541_3205+547delinsAATATAT
XM_011515360.2:c.3205+541_3205+547delinsAATATAT XP_011513662.1:n.3205+541_3205+547delinsAATATAT
XM_011515362.2:c.2056+541_2056+547delinsAATATAT XP_011513664.1:n.2056+541_2056+547delinsAATATAT
XM_017012131.2:c.3205+541_3205+547delinsAATATAT XP_016867620.1:n.3205+541_3205+547delinsAATATAT
XM_017012132.2:c.3205+541_3205+547delinsAATATAT XP_016867621.1:n.3205+541_3205+547delinsAATATAT
XR_001744688.1:n.4831+541_4831+547delinsAATATAT
XR_926936.3:n.4607+541_4607+547delinsAATATAT
NM_001037763.3:c.3205+541_3205+547delinsAATATAT MANE Select NP_001032852.2:n.3205+541_3205+547delinsAATATAT