Canonical Allele Identifier: CA2678229559

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33169641-AGTCCCCTTCCCTTCAAGAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169643_33169663del , CM000668.2:g.33169643_33169663del	GRCh38
NC_000006.11:g.33137420_33137440del , CM000668.1:g.33137420_33137440del	GRCh37
NC_000006.10:g.33245398_33245418del	NCBI36
NG_011589.1:g.27807_27827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3690+169_3691-152del MANE Select	ENSP00000339915.2:n.3690+169_3691-152del
ENST00000341947.6:c.3690+169_3691-152del	ENSP00000339915.2:n.3690+169_3691-152del
ENST00000361917.5:c.3369+169_3370-152del	ENSP00000355123.1:n.3369+169_3370-152del
ENST00000374708.8:c.3432+169_3433-152del	ENSP00000363840.4:n.3432+169_3433-152del
ENST00000477772.1:n.273-3846_273-3826del
NM_080679.2:c.3369+169_3370-152del	NP_542410.2:n.3369+169_3370-152del
NM_080680.2:c.3690+169_3691-152del	NP_542411.2:n.3690+169_3691-152del
NM_080681.2:c.3432+169_3433-152del	NP_542412.2:n.3432+169_3433-152del
XM_011514298.1:c.2844+169_2845-152del	XP_011512600.1:n.2844+169_2845-152del
XM_011514299.1:c.2976+169_2977-152del	XP_011512601.1:n.2976+169_2977-152del
XM_011514300.1:c.2796+169_2797-152del	XP_011512602.1:n.2796+169_2797-152del
XM_011514301.1:c.2733+169_2734-152del	XP_011512603.1:n.2733+169_2734-152del
XM_011514302.1:c.2577+169_2578-152del	XP_011512604.1:n.2577+169_2578-152del
XM_011514299.2:c.2976+169_2977-152del	XP_011512601.1:n.2976+169_2977-152del
XM_011514300.2:c.2796+169_2797-152del	XP_011512602.1:n.2796+169_2797-152del
XM_011514302.2:c.2577+169_2578-152del	XP_011512604.1:n.2577+169_2578-152del
XM_017010250.1:c.3690+169_3691-152del	XP_016865739.1:n.3690+169_3691-152del
XM_017010251.2:c.2508+169_2509-152del	XP_016865740.1:n.2508+169_2509-152del
NM_080680.3:c.3690+169_3691-152del MANE Select	NP_542411.2:n.3690+169_3691-152del
NM_080681.3:c.3432+169_3433-152del	NP_542412.2:n.3432+169_3433-152del
NM_080679.3:c.3369+169_3370-152del	NP_542410.2:n.3369+169_3370-152del