Canonical Allele Identifier: CA2678229561

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33169642-G-GGGAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169642_33169643insGGAAC , CM000668.2:g.33169642_33169643insGGAAC	GRCh38
NC_000006.11:g.33137419_33137420insGGAAC , CM000668.1:g.33137419_33137420insGGAAC	GRCh37
NC_000006.10:g.33245397_33245398insGGAAC	NCBI36
NG_011589.1:g.27826_27827insGTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3691-153_3691-152insGTTCC MANE Select	ENSP00000339915.2:n.3691-153_3691-152insGTTCC
ENST00000341947.6:c.3691-153_3691-152insGTTCC	ENSP00000339915.2:n.3691-153_3691-152insGTTCC
ENST00000361917.5:c.3370-153_3370-152insGTTCC	ENSP00000355123.1:n.3370-153_3370-152insGTTCC
ENST00000374708.8:c.3433-153_3433-152insGTTCC	ENSP00000363840.4:n.3433-153_3433-152insGTTCC
ENST00000477772.1:n.273-3827_273-3826insGTTCC
NM_080679.2:c.3370-153_3370-152insGTTCC	NP_542410.2:n.3370-153_3370-152insGTTCC
NM_080680.2:c.3691-153_3691-152insGTTCC	NP_542411.2:n.3691-153_3691-152insGTTCC
NM_080681.2:c.3433-153_3433-152insGTTCC	NP_542412.2:n.3433-153_3433-152insGTTCC
XM_011514298.1:c.2845-153_2845-152insGTTCC	XP_011512600.1:n.2845-153_2845-152insGTTCC
XM_011514299.1:c.2977-153_2977-152insGTTCC	XP_011512601.1:n.2977-153_2977-152insGTTCC
XM_011514300.1:c.2797-153_2797-152insGTTCC	XP_011512602.1:n.2797-153_2797-152insGTTCC
XM_011514301.1:c.2734-153_2734-152insGTTCC	XP_011512603.1:n.2734-153_2734-152insGTTCC
XM_011514302.1:c.2578-153_2578-152insGTTCC	XP_011512604.1:n.2578-153_2578-152insGTTCC
XM_011514299.2:c.2977-153_2977-152insGTTCC	XP_011512601.1:n.2977-153_2977-152insGTTCC
XM_011514300.2:c.2797-153_2797-152insGTTCC	XP_011512602.1:n.2797-153_2797-152insGTTCC
XM_011514302.2:c.2578-153_2578-152insGTTCC	XP_011512604.1:n.2578-153_2578-152insGTTCC
XM_017010250.1:c.3691-153_3691-152insGTTCC	XP_016865739.1:n.3691-153_3691-152insGTTCC
XM_017010251.2:c.2509-153_2509-152insGTTCC	XP_016865740.1:n.2509-153_2509-152insGTTCC
NM_080680.3:c.3691-153_3691-152insGTTCC MANE Select	NP_542411.2:n.3691-153_3691-152insGTTCC
NM_080681.3:c.3433-153_3433-152insGTTCC	NP_542412.2:n.3433-153_3433-152insGTTCC
NM_080679.3:c.3370-153_3370-152insGTTCC	NP_542410.2:n.3370-153_3370-152insGTTCC