Canonical Allele Identifier: CA1619890835

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33165139_33165154delinsTCCTACTGCTGCAGCC , CM000668.2:g.33165139_33165154delinsTCCTACTGCTGCAGCC	GRCh38
NC_000006.11:g.33132916_33132931delinsTCCTACTGCTGCAGCC , CM000668.1:g.33132916_33132931delinsTCCTACTGCTGCAGCC	GRCh37
NC_000006.10:g.33240894_33240909delinsTCCTACTGCTGCAGCC	NCBI36
NG_011589.1:g.32315_32330delinsGGCTGCAGCAGTAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.557-190_557-175delinsGGCTGCAGCAGTAGGA
ENST00000341947.7:c.4751-190_4751-175delinsGGCTGCAGCAGTAGGA MANE Select	ENSP00000339915.2:n.4751-190_4751-175delinsGGCTGCAGCAGTAGGA
ENST00000341947.6:c.4751-190_4751-175delinsGGCTGCAGCAGTAGGA	ENSP00000339915.2:n.4751-190_4751-175delinsGGCTGCAGCAGTAGGA
ENST00000361917.5:c.4430-190_4430-175delinsGGCTGCAGCAGTAGGA	ENSP00000355123.1:n.4430-190_4430-175delinsGGCTGCAGCAGTAGGA
ENST00000374708.8:c.4493-190_4493-175delinsGGCTGCAGCAGTAGGA	ENSP00000363840.4:n.4493-190_4493-175delinsGGCTGCAGCAGTAGGA
ENST00000477772.1:n.541-190_541-175delinsGGCTGCAGCAGTAGGA
NM_080679.2:c.4430-190_4430-175delinsGGCTGCAGCAGTAGGA	NP_542410.2:n.4430-190_4430-175delinsGGCTGCAGCAGTAGGA
NM_080680.2:c.4751-190_4751-175delinsGGCTGCAGCAGTAGGA	NP_542411.2:n.4751-190_4751-175delinsGGCTGCAGCAGTAGGA
NM_080681.2:c.4493-190_4493-175delinsGGCTGCAGCAGTAGGA	NP_542412.2:n.4493-190_4493-175delinsGGCTGCAGCAGTAGGA
XM_011514298.1:c.3905-190_3905-175delinsGGCTGCAGCAGTAGGA	XP_011512600.1:n.3905-190_3905-175delinsGGCTGCAGCAGTAGGA
XM_011514299.1:c.4037-190_4037-175delinsGGCTGCAGCAGTAGGA	XP_011512601.1:n.4037-190_4037-175delinsGGCTGCAGCAGTAGGA
XM_011514300.1:c.3857-190_3857-175delinsGGCTGCAGCAGTAGGA	XP_011512602.1:n.3857-190_3857-175delinsGGCTGCAGCAGTAGGA
XM_011514301.1:c.3794-190_3794-175delinsGGCTGCAGCAGTAGGA	XP_011512603.1:n.3794-190_3794-175delinsGGCTGCAGCAGTAGGA
XM_011514302.1:c.3638-190_3638-175delinsGGCTGCAGCAGTAGGA	XP_011512604.1:n.3638-190_3638-175delinsGGCTGCAGCAGTAGGA
XM_011514299.2:c.4037-190_4037-175delinsGGCTGCAGCAGTAGGA	XP_011512601.1:n.4037-190_4037-175delinsGGCTGCAGCAGTAGGA
XM_011514300.2:c.3857-190_3857-175delinsGGCTGCAGCAGTAGGA	XP_011512602.1:n.3857-190_3857-175delinsGGCTGCAGCAGTAGGA
XM_011514302.2:c.3638-190_3638-175delinsGGCTGCAGCAGTAGGA	XP_011512604.1:n.3638-190_3638-175delinsGGCTGCAGCAGTAGGA
XM_017010250.1:c.4751-190_4751-175delinsGGCTGCAGCAGTAGGA	XP_016865739.1:n.4751-190_4751-175delinsGGCTGCAGCAGTAGGA
XM_017010251.2:c.3569-190_3569-175delinsGGCTGCAGCAGTAGGA	XP_016865740.1:n.3569-190_3569-175delinsGGCTGCAGCAGTAGGA
NM_080680.3:c.4751-190_4751-175delinsGGCTGCAGCAGTAGGA MANE Select	NP_542411.2:n.4751-190_4751-175delinsGGCTGCAGCAGTAGGA
NM_080681.3:c.4493-190_4493-175delinsGGCTGCAGCAGTAGGA	NP_542412.2:n.4493-190_4493-175delinsGGCTGCAGCAGTAGGA
NM_080679.3:c.4430-190_4430-175delinsGGCTGCAGCAGTAGGA	NP_542410.2:n.4430-190_4430-175delinsGGCTGCAGCAGTAGGA