Canonical Allele Identifier: CA2499218529

Gene: COL12A1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75097261del , CM000668.2:g.75097261del	GRCh38
NC_000006.11:g.75806977del , CM000668.1:g.75806977del	GRCh37
NC_000006.10:g.75863697del	NCBI36
NG_042181.1:g.113649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.8571del MANE Select	ENSP00000325146.8:p.Pro2858ArgfsTer?
ENST00000322507.12:c.8571del	ENSP00000325146.8:p.Pro2858ArgfsTer?
ENST00000345356.10:c.5079del	ENSP00000305147.9:p.Pro1694ArgfsTer?
ENST00000416123.6:c.8343del	ENSP00000412864.2:p.Pro2782ArgfsTer?
ENST00000425443.6:c.1485del	ENSP00000399812.2:p.Pro496ArgfsTer?
ENST00000483888.6:c.8570+1del
ENST00000511023.1:n.186del
ENST00000615798.4:c.5004del	ENSP00000483232.1:p.Pro1669ArgfsTer?
NM_004370.5:c.8571del	NP_004361.3:p.Pro2858ArgfsTer?
NM_080645.2:c.5079del	NP_542376.2:p.Pro1694ArgfsTer?
XM_011535434.1:c.8571del	XP_011533736.1:p.Pro2858ArgfsTer?
XM_011535435.1:c.8298del	XP_011533737.1:p.Pro2767ArgfsTer?
XM_011535436.1:c.5079del	XP_011533738.1:p.Pro1694ArgfsTer?
XM_011535436.2:c.5079del	XP_011533738.1:p.Pro1694ArgfsTer?
XM_017010252.2:c.8535del	XP_016865741.1:p.Pro2846ArgfsTer?
NM_004370.6:c.8571del MANE Select	NP_004361.3:p.Pro2858ArgfsTer?
NM_080645.3:c.5079del	NP_542376.2:p.Pro1694ArgfsTer?