Canonical Allele Identifier: CA2678229532

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33169626-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169627_33169628del , CM000668.2:g.33169627_33169628del	GRCh38
NC_000006.11:g.33137404_33137405del , CM000668.1:g.33137404_33137405del	GRCh37
NC_000006.10:g.33245382_33245383del	NCBI36
NG_011589.1:g.27841_27842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3691-138_3691-137del MANE Select	ENSP00000339915.2:n.3691-138_3691-137del
ENST00000341947.6:c.3691-138_3691-137del	ENSP00000339915.2:n.3691-138_3691-137del
ENST00000361917.5:c.3370-138_3370-137del	ENSP00000355123.1:n.3370-138_3370-137del
ENST00000374708.8:c.3433-138_3433-137del	ENSP00000363840.4:n.3433-138_3433-137del
ENST00000477772.1:n.273-3812_273-3811del
NM_080679.2:c.3370-138_3370-137del	NP_542410.2:n.3370-138_3370-137del
NM_080680.2:c.3691-138_3691-137del	NP_542411.2:n.3691-138_3691-137del
NM_080681.2:c.3433-138_3433-137del	NP_542412.2:n.3433-138_3433-137del
XM_011514298.1:c.2845-138_2845-137del	XP_011512600.1:n.2845-138_2845-137del
XM_011514299.1:c.2977-138_2977-137del	XP_011512601.1:n.2977-138_2977-137del
XM_011514300.1:c.2797-138_2797-137del	XP_011512602.1:n.2797-138_2797-137del
XM_011514301.1:c.2734-138_2734-137del	XP_011512603.1:n.2734-138_2734-137del
XM_011514302.1:c.2578-138_2578-137del	XP_011512604.1:n.2578-138_2578-137del
XM_011514299.2:c.2977-138_2977-137del	XP_011512601.1:n.2977-138_2977-137del
XM_011514300.2:c.2797-138_2797-137del	XP_011512602.1:n.2797-138_2797-137del
XM_011514302.2:c.2578-138_2578-137del	XP_011512604.1:n.2578-138_2578-137del
XM_017010250.1:c.3691-138_3691-137del	XP_016865739.1:n.3691-138_3691-137del
XM_017010251.2:c.2509-138_2509-137del	XP_016865740.1:n.2509-138_2509-137del
NM_080680.3:c.3691-138_3691-137del MANE Select	NP_542411.2:n.3691-138_3691-137del
NM_080681.3:c.3433-138_3433-137del	NP_542412.2:n.3433-138_3433-137del
NM_080679.3:c.3370-138_3370-137del	NP_542410.2:n.3370-138_3370-137del