Canonical Allele Identifier: CA2678229382

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33169548-G-GAGGCTGCATC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169548_33169549insAGGCTGCATC , CM000668.2:g.33169548_33169549insAGGCTGCATC	GRCh38
NC_000006.11:g.33137325_33137326insAGGCTGCATC , CM000668.1:g.33137325_33137326insAGGCTGCATC	GRCh37
NC_000006.10:g.33245303_33245304insAGGCTGCATC	NCBI36
NG_011589.1:g.27920_27921insGATGCAGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3691-59_3691-58insGATGCAGCCT MANE Select	ENSP00000339915.2:n.3691-59_3691-58insGATGCAGCCT
ENST00000341947.6:c.3691-59_3691-58insGATGCAGCCT	ENSP00000339915.2:n.3691-59_3691-58insGATGCAGCCT
ENST00000361917.5:c.3370-59_3370-58insGATGCAGCCT	ENSP00000355123.1:n.3370-59_3370-58insGATGCAGCCT
ENST00000374708.8:c.3433-59_3433-58insGATGCAGCCT	ENSP00000363840.4:n.3433-59_3433-58insGATGCAGCCT
ENST00000477772.1:n.273-3733_273-3732insGATGCAGCCT
NM_080679.2:c.3370-59_3370-58insGATGCAGCCT	NP_542410.2:n.3370-59_3370-58insGATGCAGCCT
NM_080680.2:c.3691-59_3691-58insGATGCAGCCT	NP_542411.2:n.3691-59_3691-58insGATGCAGCCT
NM_080681.2:c.3433-59_3433-58insGATGCAGCCT	NP_542412.2:n.3433-59_3433-58insGATGCAGCCT
XM_011514298.1:c.2845-59_2845-58insGATGCAGCCT	XP_011512600.1:n.2845-59_2845-58insGATGCAGCCT
XM_011514299.1:c.2977-59_2977-58insGATGCAGCCT	XP_011512601.1:n.2977-59_2977-58insGATGCAGCCT
XM_011514300.1:c.2797-59_2797-58insGATGCAGCCT	XP_011512602.1:n.2797-59_2797-58insGATGCAGCCT
XM_011514301.1:c.2734-59_2734-58insGATGCAGCCT	XP_011512603.1:n.2734-59_2734-58insGATGCAGCCT
XM_011514302.1:c.2578-59_2578-58insGATGCAGCCT	XP_011512604.1:n.2578-59_2578-58insGATGCAGCCT
XM_011514299.2:c.2977-59_2977-58insGATGCAGCCT	XP_011512601.1:n.2977-59_2977-58insGATGCAGCCT
XM_011514300.2:c.2797-59_2797-58insGATGCAGCCT	XP_011512602.1:n.2797-59_2797-58insGATGCAGCCT
XM_011514302.2:c.2578-59_2578-58insGATGCAGCCT	XP_011512604.1:n.2578-59_2578-58insGATGCAGCCT
XM_017010250.1:c.3691-59_3691-58insGATGCAGCCT	XP_016865739.1:n.3691-59_3691-58insGATGCAGCCT
XM_017010251.2:c.2509-59_2509-58insGATGCAGCCT	XP_016865740.1:n.2509-59_2509-58insGATGCAGCCT
NM_080680.3:c.3691-59_3691-58insGATGCAGCCT MANE Select	NP_542411.2:n.3691-59_3691-58insGATGCAGCCT
NM_080681.3:c.3433-59_3433-58insGATGCAGCCT	NP_542412.2:n.3433-59_3433-58insGATGCAGCCT
NM_080679.3:c.3370-59_3370-58insGATGCAGCCT	NP_542410.2:n.3370-59_3370-58insGATGCAGCCT