Canonical Allele Identifier: CA2740091443

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 2953268
• ClinVar RCV Id: RCV003810386

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75138949dup , CM000668.2:g.75138949dup	GRCh38
NC_000006.11:g.75848665dup , CM000668.1:g.75848665dup	GRCh37
NC_000006.10:g.75905385dup	NCBI36
NG_042181.1:g.71962dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.4973dup MANE Select	ENSP00000325146.8:p.Thr1659AsnfsTer7
ENST00000322507.12:c.4973dup	ENSP00000325146.8:p.Thr1659AsnfsTer7
ENST00000345356.10:c.1481dup	ENSP00000305147.9:p.Thr495AsnfsTer7
ENST00000416123.6:c.4973dup	ENSP00000412864.2:p.Thr1659AsnfsTer7
ENST00000419671.1:c.1197dup
ENST00000483888.6:c.4973dup	ENSP00000421216.1:p.Thr1659AsnfsTer7
ENST00000615798.4:c.1406dup	ENSP00000483232.1:p.Thr470AsnfsTer7
NM_004370.5:c.4973dup	NP_004361.3:p.Thr1659AsnfsTer7
NM_080645.2:c.1481dup	NP_542376.2:p.Thr495AsnfsTer7
XM_011535434.1:c.4973dup	XP_011533736.1:p.Thr1659AsnfsTer7
XM_011535435.1:c.4700dup	XP_011533737.1:p.Thr1568AsnfsTer7
XM_011535436.1:c.1481dup	XP_011533738.1:p.Thr495AsnfsTer7
XM_011535436.2:c.1481dup	XP_011533738.1:p.Thr495AsnfsTer7
XM_017010252.2:c.4937dup	XP_016865741.1:p.Thr1647AsnfsTer7
NM_004370.6:c.4973dup MANE Select	NP_004361.3:p.Thr1659AsnfsTer7
NM_080645.3:c.1481dup	NP_542376.2:p.Thr495AsnfsTer7