Canonical Allele Identifier: CA2740097846

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 3065301
• ClinVar RCV Id: RCV003990378

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75137523_75137526del , CM000668.2:g.75137523_75137526del	GRCh38
NC_000006.11:g.75847239_75847242del , CM000668.1:g.75847239_75847242del	GRCh37
NC_000006.10:g.75903959_75903962del	NCBI36
NG_042181.1:g.73385_73388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.5308_5311del MANE Select	ENSP00000325146.8:p.Thr1770LeufsTer?
ENST00000322507.12:c.5308_5311del	ENSP00000325146.8:p.Thr1770LeufsTer?
ENST00000345356.10:c.1816_1819del	ENSP00000305147.9:p.Thr606LeufsTer?
ENST00000416123.6:c.5308_5311del	ENSP00000412864.2:p.Thr1770LeufsTer?
ENST00000419671.1:c.1511_1514del
ENST00000483888.6:c.5308_5311del	ENSP00000421216.1:p.Thr1770LeufsTer?
ENST00000615798.4:c.1741_1744del	ENSP00000483232.1:p.Thr581LeufsTer?
NM_004370.5:c.5308_5311del	NP_004361.3:p.Thr1770LeufsTer?
NM_080645.2:c.1816_1819del	NP_542376.2:p.Thr606LeufsTer?
XM_011535434.1:c.5308_5311del	XP_011533736.1:p.Thr1770LeufsTer?
XM_011535435.1:c.5035_5038del	XP_011533737.1:p.Thr1679LeufsTer?
XM_011535436.1:c.1816_1819del	XP_011533738.1:p.Thr606LeufsTer?
XM_011535436.2:c.1816_1819del	XP_011533738.1:p.Thr606LeufsTer?
XM_017010252.2:c.5272_5275del	XP_016865741.1:p.Thr1758LeufsTer?
NM_004370.6:c.5308_5311del MANE Select	NP_004361.3:p.Thr1770LeufsTer?
NM_080645.3:c.1816_1819del	NP_542376.2:p.Thr606LeufsTer?