Canonical Allele Identifier: CA2517601968

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979127_102979128insTCTTTTGTTCTC , CM000663.2:g.102979127_102979128insTCTTTTGTTCTC	GRCh38
NC_000001.10:g.103444683_103444684insTCTTTTGTTCTC , CM000663.1:g.103444683_103444684insTCTTTTGTTCTC	GRCh37
NC_000001.9:g.103217271_103217272insTCTTTTGTTCTC	NCBI36
NG_008033.1:g.134369_134370insGAGAACAAAAGA
NG_008033.2:g.134369_134370insGAGAACAAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2611-24_2611-23insGAGAACAAAAGA MANE Select	ENSP00000359114.3:n.2611-24_2611-23insGAGAACAAAAGA
ENST00000353414.8:c.2494-24_2494-23insGAGAACAAAAGA	ENSP00000302551.6:n.2494-24_2494-23insGAGAACAAAAGA
ENST00000358392.6:c.2647-24_2647-23insGAGAACAAAAGA	ENSP00000351163.2:n.2647-24_2647-23insGAGAACAAAAGA
ENST00000370096.7:c.2611-24_2611-23insGAGAACAAAAGA	ENSP00000359114.3:n.2611-24_2611-23insGAGAACAAAAGA
ENST00000512756.5:c.2263-24_2263-23insGAGAACAAAAGA	ENSP00000426533.1:n.2263-24_2263-23insGAGAACAAAAGA
ENST00000635193.1:c.1945-24_1945-23insGAGAACAAAAGA
NM_001190709.1:c.2494-24_2494-23insGAGAACAAAAGA	NP_001177638.1:n.2494-24_2494-23insGAGAACAAAAGA
NM_001854.3:c.2611-24_2611-23insGAGAACAAAAGA	NP_001845.3:n.2611-24_2611-23insGAGAACAAAAGA
NM_080629.2:c.2647-24_2647-23insGAGAACAAAAGA	NP_542196.2:n.2647-24_2647-23insGAGAACAAAAGA
NM_080630.3:c.2263-24_2263-23insGAGAACAAAAGA	NP_542197.3:n.2263-24_2263-23insGAGAACAAAAGA
XM_011540719.1:c.2611-24_2611-23insGAGAACAAAAGA	XP_011539021.1:n.2611-24_2611-23insGAGAACAAAAGA
XM_011540720.1:c.844-24_844-23insGAGAACAAAAGA	XP_011539022.1:n.844-24_844-23insGAGAACAAAAGA
XM_011540721.1:c.199-24_199-23insGAGAACAAAAGA	XP_011539023.1:n.199-24_199-23insGAGAACAAAAGA
XR_946545.1:n.3025-24_3025-23insGAGAACAAAAGA
NR_134980.1:n.2945-24_2945-23insGAGAACAAAAGA
XM_017000334.1:c.2764-24_2764-23insGAGAACAAAAGA	XP_016855823.1:n.2764-24_2764-23insGAGAACAAAAGA
XM_017000335.1:c.2758-24_2758-23insGAGAACAAAAGA	XP_016855824.1:n.2758-24_2758-23insGAGAACAAAAGA
XM_017000336.1:c.2764-24_2764-23insGAGAACAAAAGA	XP_016855825.1:n.2764-24_2764-23insGAGAACAAAAGA
XM_017000337.1:c.1162-24_1162-23insGAGAACAAAAGA	XP_016855826.1:n.1162-24_1162-23insGAGAACAAAAGA
NM_001854.4:c.2611-24_2611-23insGAGAACAAAAGA MANE Select	NP_001845.3:n.2611-24_2611-23insGAGAACAAAAGA
NM_080630.4:c.2263-24_2263-23insGAGAACAAAAGA	NP_542197.3:n.2263-24_2263-23insGAGAACAAAAGA
NR_134980.2:n.2971-24_2971-23insGAGAACAAAAGA
NM_001190709.2:c.2494-24_2494-23insGAGAACAAAAGA	NP_001177638.1:n.2494-24_2494-23insGAGAACAAAAGA
NM_080629.3:c.2647-24_2647-23insGAGAACAAAAGA	NP_542196.2:n.2647-24_2647-23insGAGAACAAAAGA