Canonical Allele Identifier: CA2573141232
Gene: COL12A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75192197del , CM000668.2:g.75192197del GRCh38
NC_000006.11:g.75901913del , CM000668.1:g.75901913del GRCh37
NC_000006.10:g.75958633del NCBI36
NG_042181.1:g.18714del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.334+18del MANE Select ENSP00000325146.8:n.334+18del
ENST00000322507.12:c.334+18del ENSP00000325146.8:n.334+18del
ENST00000345356.10:c.73+10526del ENSP00000305147.9:n.73+10526del
ENST00000416123.6:c.334+18del ENSP00000412864.2:n.334+18del
ENST00000483888.6:c.334+18del ENSP00000421216.1:n.334+18del
ENST00000615798.4:c.-3234+18del ENSP00000483232.1:n.-3234+18del
NM_004370.5:c.334+18del NP_004361.3:n.334+18del
NM_080645.2:c.73+10526del NP_542376.2:n.73+10526del
XM_011535434.1:c.334+18del XP_011533736.1:n.334+18del
XM_011535435.1:c.334+18del XP_011533737.1:n.334+18del
XM_011535436.1:c.73+10526del XP_011533738.1:n.73+10526del
XM_011535436.2:c.73+10526del XP_011533738.1:n.73+10526del
XM_017010252.2:c.298+18del XP_016865741.1:n.298+18del
NM_004370.6:c.334+18del MANE Select NP_004361.3:n.334+18del
NM_080645.3:c.73+10526del NP_542376.2:n.73+10526del