Canonical Allele Identifier: CA140995415

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75086672_75086673del , CM000668.2:g.75086672_75086673del	GRCh38
NC_000006.11:g.75796388_75796389del , CM000668.1:g.75796388_75796389del	GRCh37
NC_000006.10:g.75853108_75853109del	NCBI36
NG_042181.1:g.124258_124259del

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.9182-93_9182-92del MANE Select	NP_004361.3:n.9182-93_9182-92del
ENST00000322507.13:c.9182-93_9182-92del MANE Select	ENSP00000325146.8:n.9182-93_9182-92del
NM_004370.5:c.9182-93_9182-92del	NP_004361.3:n.9182-93_9182-92del
NM_080645.2:c.5690-93_5690-92del	NP_542376.2:n.5690-93_5690-92del
NM_080645.3:c.5690-93_5690-92del	NP_542376.2:n.5690-93_5690-92del
ENST00000322507.12:c.9182-93_9182-92del	ENSP00000325146.8:n.9182-93_9182-92del
ENST00000345356.10:c.5690-93_5690-92del	ENSP00000305147.9:n.5690-93_5690-92del
ENST00000416123.6:c.8954-93_8954-92del	ENSP00000412864.2:n.8954-93_8954-92del
ENST00000425443.6:c.2095+927_2095+928del	ENSP00000399812.2:n.2095+927_2095+928del
ENST00000615798.4:c.5615-93_5615-92del	ENSP00000483232.1:n.5615-93_5615-92del
ENST00000680981.1:n.591-93_591-92del
ENST00000681086.1:n.965-93_965-92del
XM_011535434.1:c.9181+927_9181+928del	XP_011533736.1:n.9181+927_9181+928del
XM_011535435.1:c.8908+927_8908+928del	XP_011533737.1:n.8908+927_8908+928del
XM_011535436.1:c.5689+927_5689+928del	XP_011533738.1:n.5689+927_5689+928del
XM_011535436.2:c.5689+927_5689+928del	XP_011533738.1:n.5689+927_5689+928del
XM_017010252.2:c.9145+927_9145+928del	XP_016865741.1:n.9145+927_9145+928del