Canonical Allele Identifier: CA2573052735

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75087585_75087586delinsTT , CM000668.2:g.75087585_75087586delinsTT	GRCh38
NC_000006.11:g.75797301_75797302delinsTT , CM000668.1:g.75797301_75797302delinsTT	GRCh37
NC_000006.10:g.75854021_75854022delinsTT	NCBI36
NG_042181.1:g.123322_123323delinsAA

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.9172_9173delinsAA MANE Select	NP_004361.3:p.Gly3058Asn
ENST00000322507.13:c.9172_9173delinsAA MANE Select	ENSP00000325146.8:p.Gly3058Asn
NM_004370.5:c.9172_9173delinsAA	NP_004361.3:p.Gly3058Asn
NM_080645.2:c.5680_5681delinsAA	NP_542376.2:p.Gly1894Asn
NM_080645.3:c.5680_5681delinsAA	NP_542376.2:p.Gly1894Asn
ENST00000322507.12:c.9172_9173delinsAA	ENSP00000325146.8:p.Gly3058Asn
ENST00000345356.10:c.5680_5681delinsAA	ENSP00000305147.9:p.Gly1894Asn
ENST00000416123.6:c.8944_8945delinsAA	ENSP00000412864.2:p.Gly2982Asn
ENST00000425443.6:c.2086_2087delinsAA	ENSP00000399812.2:p.Gly696Asn
ENST00000483888.6:c.9160_9161delinsAA	ENSP00000421216.1:p.Gly3054Asn
ENST00000615798.4:c.5605_5606delinsAA	ENSP00000483232.1:p.Gly1869Asn
ENST00000680981.1:n.581_582delinsAA
ENST00000681086.1:n.955_956delinsAA
XM_011535434.1:c.9172_9173delinsAA	XP_011533736.1:p.Gly3058Asn
XM_011535435.1:c.8899_8900delinsAA	XP_011533737.1:p.Gly2967Asn
XM_011535436.1:c.5680_5681delinsAA	XP_011533738.1:p.Gly1894Asn
XM_011535436.2:c.5680_5681delinsAA	XP_011533738.1:p.Gly1894Asn
XM_017010252.2:c.9136_9137delinsAA	XP_016865741.1:p.Gly3046Asn